ID   XACHi006-A
AC   CVCL_YM79
DR   hPSCreg; XACHi006-A
DR   Wikidata; Q98135115
RX   PubMed=36240644;
CC   From: Children's Research Institute of Shaanxi province, Xi'an Key Laboratory of Children's Health and Diseases; Xi'an; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; p.Arg608Ter (c.1822C>T); ClinVar=VCV000972803; Zygosity=Heterozygous (PubMed=36240644).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 5
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RX   PubMed=36240644; DOI=10.1016/j.scr.2022.102934;
RA   Huang W.-J., Zhou Y.-F., Wang J., Jiang C.-S., Zhang Y.-M., Zhou R.;
RT   "Generation of two heterozygous GAA mutation-carrying human induced
RT   pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of
RT   an infant with Pompe disease.";
RL   Stem Cell Res. 64:102934-102934(2022).
//