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Cellosaurus PUMCi002-A (CVCL_A9YW)

[Text version]
Cell line name PUMCi002-A
Synonyms C1; AF-iPSCs
Accession CVCL_A9YW
Resource Identification Initiative To cite this cell line use: PUMCi002-A (RRID:CVCL_A9YW)
Comments From: Peking Union Medical College; Beijing; China.
Population: Asian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4115; GALC; Simple; p.Pro154His (c.461C>A); ClinVar=VCV001457103; Zygosity=Heterozygous (PubMed=36270068).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 46Y
Category Induced pluripotent stem cell
Publications

PubMed=36270068; DOI=10.1016/j.scr.2022.102945
Lv Y.-F., Wang J., Cao C.-Y., Zhang Y., Wang W.
Production and characterization of human induced pluripotent stem cell line (PUMCi002-A) from a Krabbe patient related control to study disease mechanisms associated with GALC mutation.
Stem Cell Res. 65:102945-102945(2022)

Cross-references
Cell line databases/resources hPSCreg; PUMCi002-A
Biological sample resources BioSamples; SAMEA111399454
Encyclopedic resources Wikidata; Q102114792
Entry history
Entry creation29-Oct-2020
Last entry update05-Oct-2023
Version number6