Cellosaurus cell line TRNDi018-C (CVCL

Cross-references
Cell line name	TRNDi018-C
Synonyms	NCATS-CL9075; HT594C
Accession	CVCL_A8RG
Resource Identification Initiative	To cite this cell line use: TRNDi018-C (RRID:CVCL_A8RG)
Comments	From: NIH-NCATS-TRND Branch; Rockville; USA. Population: Caucasian; German. 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.Leu318Pro (c.953T>C); Zygosity=Heterozygous (PubMed=34051448). Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Arg390Pro (c.1169G>C); ClinVar=VCV000221580; Zygosity=Heterozygous (PubMed=34051448).
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_RT85 (GM26602)
Sex of cell	Male
Age at sampling	2Y
Category	Induced pluripotent stem cell
Publications	PubMed=34051448; DOI=10.1016/j.scr.2021.102400; PMCID=PMC8362228 Pradhan M., Farkhondeh A., Cheng Y.-S., Xu M., Beers J.K., Zou J.-H., Liu C.-Y., Might M., Rodems S., Baumgartel K., Zheng W. An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene. Stem Cell Res. 54:102400-102400(2021)
Cell line databases/resources	hPSCreg; TRNDi018-C
Encyclopedic resources	Wikidata; Q108821396
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	7