ID   TRNDi010-C
AC   CVCL_XI88
SY   HT592C
DR   hPSCreg; TRNDi010-C
DR   Wikidata; Q98133605
RX   PubMed=31326749;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Caucasian; English.
CC   Sequence variation: Mutation; HGNC; 17646; NGLY1; Simple; p.Arg401Ter (c.1201A>T); ClinVar=VCV000050962; Zygosity=Homozygous (PubMed=31326749).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126746; Congenital disorder of deglycosylation
DI   ORDO; Orphanet_404454; Alacrimia-choreoathetosis-liver dysfunction syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_RT93 ! GM26612
SX   Female
AG   16Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 05-10-23; Version: 9
//
RX   PubMed=31326749; DOI=10.1016/j.scr.2019.101496;
RA   Yang S., Cheng Y.-S., Li R., Pradhan M., Hong J.-J., Beers J.K.,
RA   Zou J.-H., Liu C.-Y., Might M., Rodems S., Zheng W.;
RT   "An induced pluripotent stem cell line (TRNDi010-C) from a patient
RT   carrying a homozygous p.R401X mutation in the NGLY1 gene.";
RL   Stem Cell Res. 39:101496-101496(2019).
//