ID   CHOCi003-A
AC   CVCL_C9Z9
DR   hPSCreg; CHOCi003-A
DR   Wikidata; Q123030921
RX   PubMed=37167752;
CC   From: Children's Hospital of Orange County; Orange; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; p.Asn87Glnfs*9 (c.258dupC) (c.251insC); ClinVar=VCV000282842; Zygosity=Heterozygous (PubMed=37167752).
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; p.Gln743Ter (c.2227C>T); ClinVar=VCV000370157; Zygosity=Heterozygous (PubMed=37167752).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   16Y1M
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37167752; DOI=10.1016/j.scr.2023.103117;
RA   Christensen C.L., Heckman P., Rha A., Kan S.-H., Harb J., Wang R.;
RT   "Generation of two induced pluripotent stem cell lines (CHOCi002-A and
RT   CHOCi003-A) from Pompe disease patients with compound heterozygous
RT   mutations in the GAA gene.";
RL   Stem Cell Res. 69:103117-103117(2023).
//