Cellosaurus cell line CHOCi003-A (CVCL

Cross-references
Cell line name	CHOCi003-A
Accession	CVCL_C9Z9
Resource Identification Initiative	To cite this cell line use: CHOCi003-A (RRID:CVCL_C9Z9)
Comments	From: Children's Hospital of Orange County; Orange; USA. Population: Caucasian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4065; GAA; Simple; p.Asn87Glnfs*9 (c.258dupC) (c.251insC); ClinVar=VCV000282842; Zygosity=Heterozygous (PubMed=37167752). Mutation; HGNC; HGNC:4065; GAA; Simple; p.Gln743Ter (c.2227C>T); ClinVar=VCV000370157; Zygosity=Heterozygous (PubMed=37167752).
Disease	Glycogen storage disease type II (NCIt: C84734) Glycogen storage disease due to acid maltase deficiency (ORDO: Orphanet_365)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	16Y1M
Category	Induced pluripotent stem cell
Publications	PubMed=37167752; DOI=10.1016/j.scr.2023.103117; PMCID=PMC10281086 Chloe L. Christensen, Perla Heckman, Allisandra Rha, Shih-Hsin Kan, Jerry Fuad Harb, Raymond Wang; Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene. Stem Cell Res. 69:103117-103117(2023)
Cell line databases/resources	hPSCreg; CHOCi003-A
Encyclopedic resources	Wikidata; Q123030921
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3