ID   XACHi002-A
AC   CVCL_YM75
DR   hPSCreg; XACHi002-A
DR   Wikidata; Q98135105
RX   PubMed=31743840;
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=31743840).
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; p.Glu888Ter (c.2662G>T); ClinVar=VCV000578595; Zygosity=Heterozygous (PubMed=31743840).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84734; Glycogen storage disease type II
DI   ORDO; Orphanet_365; Glycogen storage disease due to acid maltase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5M
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=31743840; DOI=10.1016/j.scr.2019.101621;
RA   Zhang Y.-M., Li A.-M., Wang J., Wang G.-X., Wang D.-Y.;
RT   "Generation of induced pluripotent stem cells (iPSCs) from an infant
RT   with Pompe disease carrying with compound mutations of R608X and E888X
RT   in GAA gene.";
RL   Stem Cell Res. 41:101621-101621(2019).
//