Cellosaurus cell line TRNDi010-D-1 (CVCL

Cellosaurus TRNDi010-D-1 (CVCL_B5GJ)

Cross-references
Cell line name	TRNDi010-D-1
Synonyms	NGLY X401R M4; NCATS-CL6104; GM28560; GM28560*B
Accession	CVCL_B5GJ
Resource Identification Initiative	To cite this cell line use: TRNDi010-D-1 (RRID:CVCL_B5GJ)
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=Heterozygous (PubMed=34619643). Mutation; HGNC; HGNC:17646; NGLY1; Simple_corrected; p.Arg401Ter (c.1201A>T); ClinVar=VCV000050962; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34619643).
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_B5GI (TRNDi010-D)
Sex of cell	Female
Age at sampling	16Y
Category	Induced pluripotent stem cell
Publications	PubMed=34619643; DOI=10.1016/j.scr.2021.102554; PMCID=PMC8647947 Pavlinov I., Farkhondeh A., Yang S., Xu M., Cheng Y.-S., Beers J.K., Zou J.-H., Liu C.-Y., Might M., Rodems S., Baumgartel K., Zheng W. Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9. Stem Cell Res. 56:102554-102554(2021)
Cell line collections (Providers)	Coriell; GM28560
Cell line databases/resources	hPSCreg; TRNDi010-D-1
Encyclopedic resources	Wikidata; Q110433290
Entry history
Entry creation	16-Dec-2021
Last entry update	19-Dec-2024
Version number	7