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Cellosaurus TRNDi018-C (CVCL_A8RG)

[Text version]

Cell line name TRNDi018-C
Synonyms HT594C; NCATS-CL9075
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 sampling site: Arm; skin.
Sequence variations Mutation; HGNC; 17646; NGLY1; Simple; p.Leu318Pro (c.953T>C); Zygosity=Heterozygous (PubMed=34051448).
Mutation; 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

PubMed=34051448; DOI=10.1016/j.scr.2021.102400
Pradhan M., Farkhondeh A., Cheng Y.-S., Xu M., Beers J., 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
Entry history
Entry creation23-Sep-2021
Last entry update23-Sep-2021
Version number1