Cellosaurus cell line TRNDi010-C (CVCL

Cross-references
Cell line name	TRNDi010-C
Synonyms	HT592C
Accession	CVCL_XI88
Resource Identification Initiative	To cite this cell line use: TRNDi010-C (RRID:CVCL_XI88)
Comments	From: NIH-NCATS-TRND Branch; Rockville; USA. Population: Caucasian; English. Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Arg401Ter (c.1201A>T); ClinVar=VCV000050962; Zygosity=Homozygous (PubMed=31326749).
Disease	Congenital disorder of deglycosylation (NCIt: C126746) Alacrimia-choreoathetosis-liver dysfunction syndrome (ORDO: Orphanet_404454)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_RT93 (GM26612)
Sex of cell	Female
Age at sampling	16Y
Category	Induced pluripotent stem cell
Publications	PubMed=31326749; DOI=10.1016/j.scr.2019.101496; PMCID=PMC6910241 Shu Yang, Yu-Shan Cheng, Rong Li, Manisha Pradhan, Jun-Jie Hong, Jeanette K. Beers, Ji-Zhong Zou, Cheng-Yu Liu, Matthew Might, Steven Rodems, Wei Zheng; An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene. Stem Cell Res. 39:101496-101496(2019)
Cell line databases/resources	hPSCreg; TRNDi010-C
Encyclopedic resources	Wikidata; Q98133605
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	10