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        <titl xml:lang="sv">Data för: ALK R1275Q-mutationen driver expansion av SCP-liknande celler under sympatoadrenal engagemang och initierar neuroblastom</titl>
        <parTitl xml:lang="en">Data for: ALK R1275Q mutation drives expansion of SCP-like cells during sympathoadrenal commitment and primes neuroblastoma initiation</parTitl>
        <IDNo agency="SND">2026-7-1</IDNo>
        <IDNo agency="DOI">https://doi.org/10.48723/9bm1-gr40</IDNo>
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        <producer xml:lang="sv" abbr="SND">Svensk nationell datatjänst</producer>
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    <citation>
      <titlStmt>
        <titl xml:lang="sv">Data för: ALK R1275Q-mutationen driver expansion av SCP-liknande celler under sympatoadrenal engagemang och initierar neuroblastom</titl>
        <parTitl xml:lang="en">Data for: ALK R1275Q mutation drives expansion of SCP-like cells during sympathoadrenal commitment and primes neuroblastoma initiation</parTitl>
        <IDNo agency="SND">2026-7-1</IDNo>
        <IDNo agency="DOI">https://doi.org/10.48723/9bm1-gr40</IDNo>
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        <AuthEnty xml:lang="en" affiliation="Department of Microbiology, Tumor and Cell Biology [C1], Karolinska Institutet">Liu, Mingzhi</AuthEnty>
        <AuthEnty xml:lang="sv" affiliation="Institutionen för mikrobiologi, tumör- och cellbiologi, Karolinska Institutet">Liu, Mingzhi</AuthEnty>
        <AuthEnty xml:lang="en" affiliation="Department of Microbiology, Tumor and Cell Biology [C1], Karolinska Institutet">Wilhelm, Margareta</AuthEnty>
        <AuthEnty xml:lang="sv" affiliation="Institutionen för mikrobiologi, tumör- och cellbiologi, Karolinska Institutet">Wilhelm, Margareta</AuthEnty>
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        <distrbtr xml:lang="en" abbr="SND" URI="https://snd.se">Swedish National Data Service</distrbtr>
        <distrbtr xml:lang="sv" abbr="SND" URI="https://snd.se">Svensk nationell datatjänst</distrbtr>
        <distDate xml:lang="en" date="2026-09-08" />
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      <holdings URI="https://doi.org/10.48723/9bm1-gr40">Landing page</holdings>
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    <stdyInfo>
      <subject>
        <keyword xml:lang="en" vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D009432">Neural Crest</keyword>
        <keyword xml:lang="sv" vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D009432">Neurallist</keyword>
        <keyword xml:lang="en" vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D009447">Neuroblastoma</keyword>
        <keyword xml:lang="sv" vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D009447">Neuroblastom</keyword>
        <keyword xml:lang="en" vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D057026">Induced Pluripotent Stem Cells</keyword>
        <keyword xml:lang="sv" vocab="MeSH" vocabURI="http://id.nlm.nih.gov/mesh/D057026">Inducerade pluripotenta stamceller</keyword>
      </subject>
      <abstract xml:lang="en" contentType="abstract">Overview This dataset contains raw and processed transcriptomic profiling data generated from a human induced pluripotent stem cell (iPSC)-based model of sympathoadrenal (SA) lineage differentiation. The study investigates the role of the ALK R1275Q mutation in Neuroblastoma initiation. The dataset includes single-cell RNA sequencing (scRNA-seq) and bulk RNA sequencing data derived from healthy control iPSCs and patient-derived iPSCs carrying the germline ALK R1275Q mutation.

The dataset consists of approximately 500 files totalling approximately 486 GB

Data Generation and Methods Human iPSCs (Control lines: Ctrl7, Ctrl10, Ctrl14; Patient lines: NB1, NB2, NB4) were differentiated into trunk neural crest cells (tNCCs), sympathoadrenal progenitors (SAPs), and mature sympathoadrenal cells (SAMs).

Single-Cell RNA Sequencing (scRNA-seq):

Platform: 10x Genomics Single Cell 3' v3.1.

Sequencing: Performed on MGI DNBSEQ PE100.

Samples: Collected at four developmental stages: tNCC, SAP, Day 8 (D8), and Day 12 (D12) from Ctrl10, NB1, NB2, and NB4.

Bulk RNA Sequencing:

Platform: Illumina PE150 sequencing.

Samples: Collected at six developmental stages: tNCC, SAP, Day 6, Day 8, Day 10 and Day 12 from Ctrl7, Ctrl10, Ctrl14, NB1, NB2, and NB4

File Content and Organization The dataset consists of the following file types:

Raw Sequencing Data (FASTQ):

Unprocessed sequencing reads in .fastq.gz format.

For scRNA-seq: Paired-end reads (e.g., R1 containing cell barcodes/UMIs, R2 containing the transcript insert).

For Bulk RNA-seq: Paired-end reads (R1/R2).

Filenames typically indicate sample ID, library (GE or HTO), lane number, and read direction (e.g., SampleID_GE/HTO_L001_R1_001.fastq.gz).

Processed Data:

Gene Expression Matrices: Count matrices (e.g., .mtx, .tsv) generated by Cell Ranger (for scRNA-seq) or Salmon (for bulk RNA-seq).

Metadata: Tables containing sample information and differentiation time points.</abstract>
      <abstract xml:lang="sv" contentType="abstract">Översikt Denna datauppsättning innehåller råa och bearbetade transkriptomiska profileringsdata genererade från en modell av sympatoadrenal (SA) härstamningsdifferentiering baserad på människainducerade pluripotenta stamceller (iPSC). Studien undersöker rollen av ALK R1275Q-mutationen i neuroblastominitiering. Datauppsättningen inkluderar encellig RNA-sekvensering (scRNA-seq) och bulk-RNA-sekvenseringsdata härledda från friska kontroll-iPSC:er och patienthärledda iPSC:er som bär germline-mutationen ALK R1275Q.

Datagenerering och metoder Humana iPSC:er (kontrolllinjer: Ctrl7, Ctrl10, Ctrl14; patientlinjer: NB1, NB2, NB4) differentierades till stamceller i neural crest (tNCC), sympatoadrenala progenitorceller (SAP) och mogna sympatoadrenala celler (SAM).

Encellig RNA-sekvensering (scRNA-seq):

Plattform: 10x Genomics Single Cell 3' v3.1.

Sekvensering: Utförd på MGI DNBSEQ PE100.

Prover: Insamlade vid fyra utvecklingsstadier: tNCC, SAP, dag 8 (D8) och dag 12 (D12) från Ctrl10, NB1, NB2 och NB4.

Bulk-RNA-sekvensering:

Plattform: Illumina PE150-sekvensering.

Prover: Insamlade vid sex utvecklingsstadier: tNCC, SAP, dag 6, dag 8, dag 10 och dag 12 från Ctrl7, Ctrl10, Ctrl14, NB1, NB2 och NB4

Filinnehåll och organisation Datasetet består av följande filtyper:

Råsekvenseringsdata (FASTQ):

Obearbetade sekvenseringsläsningar i .fastq.gz-format.

För scRNA-seq: Parade ändar (t.ex. R1 som innehåller cellstreckkoder/UMI, R2 som innehåller transkriptinsatsen).

För Bulk RNA-sekvensering: Parade ändar (R1/R2).

Filnamn anger vanligtvis prov-ID, bibliotek (GE eller HTO), filnummer och läsriktning (t.ex. SampleID_GE/HTO_L001_R1_001.fastq.gz).

Bearbetade data:

Genuttrycksmatriser: Räknematriser (t.ex. .mtx, .tsv) genererade av Cell Ranger (för scRNA-sekvensering) eller Salmon (för bulk RNA-sekvensering).

Metadata: Tabeller som innehåller provinformation och differentieringstidpunkter.</abstract>
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        <anlyUnit xml:lang="sv" unit="Celler">Celler<concept vocab="DDI Analysis Unit" vocabURI="https://vocabularies.cessda.eu/v2/vocabularies/AnalysisUnit/2.1.3?languageVersion=sv-2.1.3">Celler</concept></anlyUnit>
        <universe xml:lang="en">Human induced pluripotent stem cell (iPSC) lines derived from patients with Neuroblastoma carrying the germline ALK R1275Q mutation, as well as iPSC lines from healthy control individuals. (Refers to specific cell lines: NB1, NB2, NB4 and Ctrl7, Ctrl10, Ctrl14)</universe>
        <universe xml:lang="sv">Humana inducerade pluripotenta stamceller (iPSC) härledda från patienter med neuroblastom som bär på mutationen ALK R1275Q i könsceller, samt iPSC-linjer från friska kontrollpersoner. (Avser specifika cellinjer: NB1, NB2, NB4 och Ctrl7, Ctrl10, Ctrl14)</universe>
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        <sampProc xml:lang="en">A non-probability, purposive sampling strategy was employed. The study utilized specific human induced pluripotent stem cell (iPSC) lines selected based on their genetic profile to model Neuroblastoma initiation. The sample consists of: Patient-derived lines (n=3): Established from skin biopsies of patients diagnosed with Neuroblastoma carrying the germline ALK R1275Q mutation (Cell lines: NB1, NB2, NB4). Control lines (n=3): Established from healthy individuals to serve as experimental controls (Cell lines: Ctrl7, Ctrl10, Ctrl14). The patient samples were collected at Karolinska University Hospital after informed consent and according to ethical approval (EPN 2009/1369-31/1, EPN 2022-07254-01). Ctrl iPS cell lines were obtained from Karolinska Institutet iPS Core facility (EPN 2012/208-31/3).<concept vocab="DDI Sampling Procedure" vocabURI="https://vocabularies.cessda.eu/v2/vocabularies/SamplingProcedure/2.0.1?languageVersion=en-2.0.1">A non-probability, purposive sampling strategy was employed. The study utilized specific human induced pluripotent stem cell (iPSC) lines selected based on their genetic profile to model Neuroblastoma initiation. The sample consists of: Patient-derived lines (n=3): Established from skin biopsies of patients diagnosed with Neuroblastoma carrying the germline ALK R1275Q mutation (Cell lines: NB1, NB2, NB4). Control lines (n=3): Established from healthy individuals to serve as experimental controls (Cell lines: Ctrl7, Ctrl10, Ctrl14). The patient samples were collected at Karolinska University Hospital after informed consent and according to ethical approval (EPN 2009/1369-31/1, EPN 2022-07254-01). Ctrl iPS cell lines were obtained from Karolinska Institutet iPS Core facility (EPN 2012/208-31/3).</concept></sampProc>
        <sampProc xml:lang="sv">En icke-sannolikhetsbaserad, målinriktad urvalsstrategi användes. Studien använde specifika humana inducerade pluripotenta stamceller (iPSC)-linjer valda baserat på deras genetiska profil för att modellera neuroblastominitiering. Urvalet består av: Patient-deriverade linjer (n=3): Etablerade från hudbiopsier från patienter diagnostiserade med neuroblastom som bär på könslinjen ALK R1275Q-mutationen (cellinjer: NB1, NB2, NB4). Kontrolllinjer (n=3): Etablerade från friska individer för att fungera som experimentella kontroller (cellinjer: Ctrl7, Ctrl10, Ctrl14). Patientproverna samlades in på Karolinska Universitetssjukhuset efter informerat samtycke och i enlighet med etiskt godkännande (EPN 2009/1369-31/1, EPN 2022-07254-01). Ctrl iPS-cellinjer erhölls från Karolinska Institutets iPS Core-anläggning (EPN 2012/208-31/3).<concept vocab="DDI Sampling Procedure" vocabURI="https://vocabularies.cessda.eu/v2/vocabularies/SamplingProcedure/2.0.1?languageVersion=sv-2.0.1">En icke-sannolikhetsbaserad, målinriktad urvalsstrategi användes. Studien använde specifika humana inducerade pluripotenta stamceller (iPSC)-linjer valda baserat på deras genetiska profil för att modellera neuroblastominitiering. Urvalet består av: Patient-deriverade linjer (n=3): Etablerade från hudbiopsier från patienter diagnostiserade med neuroblastom som bär på könslinjen ALK R1275Q-mutationen (cellinjer: NB1, NB2, NB4). Kontrolllinjer (n=3): Etablerade från friska individer för att fungera som experimentella kontroller (cellinjer: Ctrl7, Ctrl10, Ctrl14). Patientproverna samlades in på Karolinska Universitetssjukhuset efter informerat samtycke och i enlighet med etiskt godkännande (EPN 2009/1369-31/1, EPN 2022-07254-01). Ctrl iPS-cellinjer erhölls från Karolinska Institutets iPS Core-anläggning (EPN 2012/208-31/3).</concept></sampProc>
        <sampProc xml:lang="en">Non-probability: Purposive<concept vocab="DDI Sampling Procedure" vocabURI="https://vocabularies.cessda.eu/v2/vocabularies/SamplingProcedure/2.0.1?languageVersion=en-2.0.1">Non-probability: Purposive</concept></sampProc>
        <sampProc xml:lang="sv">Icke-sannolikhetsurval: syftesurval<concept vocab="DDI Sampling Procedure" vocabURI="https://vocabularies.cessda.eu/v2/vocabularies/SamplingProcedure/2.0.1?languageVersion=sv-2.0.1">Icke-sannolikhetsurval: syftesurval</concept></sampProc>
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        <restrctn xml:lang="en">Access to data through SND. Access to data is restricted.</restrctn>
        <restrctn xml:lang="sv">Åtkomst till data via SND. Tillgång till data är begränsad.</restrctn>
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