Cellosaurus cell line CMCi007-A (CVCL

Cross-references
Cell line name	CMCi007-A
Synonyms	CMC-Fb-004; CMC-Fb-004-hiPSCs; Fb4-hiPSC
Accession	CVCL_A4EP
Resource Identification Initiative	To cite this cell line use: CMCi007-A (RRID:CVCL_A4EP)
Comments	From: The Catholic University of Korea; Seoul; South Korea. Population: Korean. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4296; GLA; Simple; p.Leu324Trpfs*24 (c.969delC); ClinVar=VCV001050825; Zygosity=Heterozygous (PubMed=33545641).
Disease	Fabry disease (NCIt: C84701) Fabry disease (ORDO: Orphanet_324)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	50Y
Category	Induced pluripotent stem cell
Publications	PubMed=33545641; DOI=10.1016/j.scr.2021.102214 Sheng Cui, Yoo Jin Shin, Eun Jeong Ko, Sun Woo Lim, Ji Hyeon Ju, Kang In Lee, Jae Young Lee, Chul Woo Yang, Byung Ha Chung; Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation. Stem Cell Res. 51:102214-102214(2021)
Cell line databases/resources	hPSCreg; CMCi007-A
Biological sample resources	BioSamples; SAMEA7807667
Encyclopedic resources	Wikidata; Q105506651
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	7