ID   TRNDi007-A
AC   CVCL_UL26
SY   HT521A
DR   hPSCreg; TRNDi007-A
DR   Wikidata; Q98133595
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 4065; GAA; Simple; p.Arg854Ter (c.2560C>T); ClinVar=VCV000004034; Zygosity=Homozygous (from parent cell line).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
HI   CVCL_1K46 ! GM00248
SX   Male
AG   5M
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 9
//