ID   NCATS-CL9318
AC   CVCL_B5TT
SY   GM28622; GM28622*B
DR   Coriell; GM28622
DR   Wikidata; Q112129412
RX   PubMed=33375166;
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_1K47 ! GM00338
SX   Male
AG   1M
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 30-01-24; Version: 5
//
RX   PubMed=33375166; DOI=10.3390/cells10010008; PMCID=PMC7822217;
RA   Cheng Y.-S., Yang S., Hong J.-J., Li R., Beers J.K., Zou J.-Z.,
RA   Huang W.-W., Zheng W.;
RT   "Modeling CNS involvement in Pompe disease using neural stem cells
RT   generated from patient-derived induced pluripotent stem cells.";
RL   Cells 10:8.1-8.14(2021).
//