Cellosaurus cell line PUMCi002-A (CVCL

Cross-references
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; 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 Ya-Feng Lv, Jing Wang, Chun-Yu Cao, Ye Zhang, Wei Wang; 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)
Cell line databases/resources	hPSCreg; PUMCi002-A
Biological sample resources	BioSamples; SAMEA111399454
Encyclopedic resources	Wikidata; Q102114792
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	7