ID   TRNDi010-D
AC   CVCL_B5GI
SY   NCATS-CL6103; HT592D
DR   hPSCreg; TRNDi010-D
DR   Wikidata; Q110433289
RX   PubMed=34619643;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Caucasian; English.
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Arg401Ter (c.1201A>T); ClinVar=VCV000050962; Zygosity=Homozygous (PubMed=34619643).
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: 16-12-21; Last updated: 19-12-24; Version: 6
CH   CVCL_B5GJ ! TRNDi010-D-1
CH   CVCL_B5GK ! TRNDi010-D-2
//
RX   PubMed=34619643; DOI=10.1016/j.scr.2021.102554; PMCID=PMC8647947;
RA   Pavlinov, Ivan
RA   Farkhondeh, Atena
RA   Yang, Shu
RA   Xu, Miao
RA   Cheng, Yu-Shan
RA   Beers, Jeanette K.
RA   Zou, Ji-Zhong
RA   Liu, Cheng-Yu
RA   Might, Matthew
RA   Rodems, Steven
RA   Baumgartel, Karsten
RA   Zheng, Wei
RT   "Generation of two gene corrected human isogenic iPSC lines
RT   (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103)
RT   carrying a homozygous p.R401X mutation in the NGLY1 gene using
RT   CRISPR/Cas9.";
RL   Stem Cell Res. 56:102554-102554(2021).
//