Cellosaurus cell line XACHi002-A (CVCL

Cross-references
Cell line name	XACHi002-A
Accession	CVCL_YM75
Resource Identification Initiative	To cite this cell line use: XACHi002-A (RRID:CVCL_YM75)
Comments	From: Children's Research Institute of Shaanxi province, Xi'an Key Laboratory of Children's Health and Diseases; Xi'an; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4065; GAA; Simple; p.Arg608Ter (c.1822C>T); ClinVar=VCV000972803; Zygosity=Heterozygous (PubMed=31743840). Mutation; HGNC; HGNC:4065; GAA; Simple; p.Glu888Ter (c.2662G>T); ClinVar=VCV000578595; Zygosity=Heterozygous (PubMed=31743840).
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	5M
Category	Induced pluripotent stem cell
Publications	PubMed=31743840; DOI=10.1016/j.scr.2019.101621 Yan-Min Zhang, An-Mao Li, Jie Wang, Guo-Xia Wang, Dan-Ying Wang; Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene. Stem Cell Res. 41:101621-101621(2019)
Cell line databases/resources	hPSCreg; XACHi002-A
Encyclopedic resources	Wikidata; Q98135105
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	7