ID   TRNDi010-D-2
AC   CVCL_B5GK
SY   NGLY X401R I4; NCATS-CL6105
DR   hPSCreg; TRNDi010-D-2
DR   Wikidata; Q110433291
RX   PubMed=34619643;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Population: Caucasian; English.
CC   Sequence variation: Mutation; HGNC; 17646; NGLY1; Simple_corrected; p.Arg401Ter (c.1201A>T); ClinVar=VCV000050962; Zygosity=Homozygous; Note=By CRISPR/Cas9 (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_B5GI ! TRNDi010-D
SX   Female
AG   16Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 05-10-23; Version: 5
//
RX   PubMed=34619643; DOI=10.1016/j.scr.2021.102554;
RA   Pavlinov I., Farkhondeh A., Yang S., Xu M., Cheng Y.-S., Beers J.K.,
RA   Zou J.-H., Liu C.-Y., Might M., Rodems S., Baumgartel K., Zheng W.;
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).
//