ID   TRNDi007-B
AC   CVCL_UL27
SY   NCATS-CL9317; HT521B; GM28229
DR   Coriell; GM28229
DR   hPSCreg; TRNDi007-B
DR   Wikidata; Q98133596
RX   PubMed=31026687;
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 (PubMed=31026687).
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: 05-10-23; Version: 11
//
RX   PubMed=31026687; DOI=10.1016/j.scr.2019.101435;
RA   Cheng Y.-S., Li R., Baskfield A., Beers J.K., Zou J.-H., Liu C.-Y.,
RA   Zheng W.;
RT   "A human induced pluripotent stem cell line (TRNDi007-B) from an
RT   infantile onset Pompe patient carrying p.R854X mutation in the GAA
RT   gene.";
RL   Stem Cell Res. 37:101435-101435(2019).
//
RX   PubMed=33375166; DOI=10.3390/cells10010008;
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).
//