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Cellosaurus SDASi001-A (CVCL_D0LL)

[Text version]
Cell line name SDASi001-A
Accession CVCL_D0LL
Resource Identification Initiative To cite this cell line use: SDASi001-A (RRID:CVCL_D0LL)
Comments From: Qilu University of Technology, Shandong Academy of Sciences; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 11102; SMARCAL1; Simple; p.Ala325Serfs*34 (c.971dupC); Zygosity=Heterozygous (PubMed=37788557).
  • Mutation; HGNC; 11102; SMARCAL1; Simple; c.1334+1G>A; dbSNP=rs1384402545; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=37788557).
Disease Schimke immunoosseous dysplasia (NCIt: C135087)
Schimke immuno-osseous dysplasia (ORDO: Orphanet_1830)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=37788557; DOI=10.1016/j.scr.2023.103217
Wang X.-C., Zhang H.-X., Wang X.-B., Zhou W.-R., Dong L.-L., Li N., He Q.-X.
Generation of an induced pluripotent stem cell line (SDASi001-A) from a Schimke immune-osseous dysplasia patient with SMARCAL1 mutations.
Stem Cell Res. 72:103217-103217(2023)

Cross-references
Cell line databases/resources hPSCreg; SDASi001-A
Biological sample resources BioSamples; SAMEA114402110
Encyclopedic resources Wikidata; Q123033447
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2