Cellosaurus cell line XACHi006-A (CVCL

Cross-references
Cell line name	XACHi006-A
Accession	CVCL_YM79
Resource Identification Initiative	To cite this cell line use: XACHi006-A (RRID:CVCL_YM79)
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=36240644).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	30Y
Category	Induced pluripotent stem cell
Publications	PubMed=36240644; DOI=10.1016/j.scr.2022.102934 Huang W.-J., Zhou Y.-F., Wang J., Jiang C.-S., Zhang Y.-M., Zhou R. Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease. Stem Cell Res. 64:102934-102934(2022)
Cell line databases/resources	hPSCreg; XACHi006-A
Encyclopedic resources	Wikidata; Q98135115
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	6