ID   TRNDi018-C
AC   CVCL_A8RG
SY   NCATS-CL9075; HT594C
DR   hPSCreg; TRNDi018-C
DR   Wikidata; Q108821396
RX   PubMed=34051448;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; 17646; NGLY1; Simple; p.Leu318Pro (c.953T>C); Zygosity=Heterozygous (PubMed=34051448).
CC   Sequence variation: Mutation; HGNC; 17646; NGLY1; Simple; p.Arg390Pro (c.1169G>C); ClinVar=VCV000221580; Zygosity=Heterozygous (PubMed=34051448).
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_RT85 ! GM26602
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 05-10-23; Version: 6
//
RX   PubMed=34051448; DOI=10.1016/j.scr.2021.102400;
RA   Pradhan M., Farkhondeh A., Cheng Y.-S., Xu M., Beers J.K., Zou J.-H.,
RA   Liu C.-Y., Might M., Rodems S., Baumgartel K., Zheng W.;
RT   "An induced pluripotent stem cell line (NCATS-CL9075) from a patient
RT   carrying compound heterozygote mutations, p.R390P and p.L318P, in the
RT   NGLY1 gene.";
RL   Stem Cell Res. 54:102400-102400(2021).
//