ID   TRNDi002-B
AC   CVCL_UL09
SY   HT519B
DR   hPSCreg; TRNDi002-B
DR   Wikidata; Q98133573
RX   PubMed=30612078;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1397; CACNA1S; Simple; p.Thr1354Ser (c.4060A>T); ClinVar=VCV000161208; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 17646; NGLY1; Simple; p.Gln208Ter (c.622C>T); ClinVar=VCV000221578; Zygosity=Heterozygous (PubMed=30612078).
CC   Sequence variation: Mutation; HGNC; 17646; NGLY1; Simple; p.Gly310Gly (c.930C>T); ClinVar=VCV000221583; Zygosity=Heterozygous (PubMed=30612078).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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_BX28 ! GM25344
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 05-10-23; Version: 10
//
RX   PubMed=30612078; DOI=10.1016/j.scr.2018.101362;
RA   Li R., Pradhan M., Xu M., Baskfield A., Farkhondeh A., Cheng Y.-S.,
RA   Beers J.K., Zou J.-H., Liu C.-Y., Might M., Rodems S., Zheng W.;
RT   "Generation of an induced pluripotent stem cell line (TRNDi002-B) from
RT   a patient carrying compound heterozygous p.Q208X and p.G310G mutations
RT   in the NGLY1 gene.";
RL   Stem Cell Res. 34:101362-101362(2019).
//