ID   TRNDi018-D
AC   CVCL_A8RH
SY   HT594D
DR   hPSCreg; TRNDi018-D
DR   Wikidata; Q108821397
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 (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 17646; NGLY1; Simple; p.Arg390Pro (c.1169G>C); ClinVar=VCV000221580; Zygosity=Heterozygous (from parent cell line).
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: 29-06-23; Version: 5
//