Cellosaurus cell line TRNDi002-B (CVCL

Cellosaurus TRNDi002-B (CVCL_UL09)

Cross-references
Cell line name	TRNDi002-B
Synonyms	HT519B
Accession	CVCL_UL09
Resource Identification Initiative	To cite this cell line use: TRNDi002-B (RRID:CVCL_UL09)
Comments	From: NIH-NCATS-TRND Branch; Rockville; USA. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:1397; CACNA1S; Simple; p.Thr1354Ser (c.4060A>T); ClinVar=VCV000161208; Zygosity=Heterozygous (from parent cell line). Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Gln208Ter (c.622C>T); ClinVar=VCV000221578; Zygosity=Heterozygous (PubMed=30612078). Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Gly310Gly (c.930C>T); ClinVar=VCV000221583; Zygosity=Heterozygous (PubMed=30612078).
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_BX28 (GM25344)
Sex of cell	Male
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=30612078; DOI=10.1016/j.scr.2018.101362; PMCID=PMC6492929 Rong Li, Manisha Pradhan, Miao Xu, Amanda Baskfield, Atena Farkhondeh, Yu-Shan Cheng, Jeanette K. Beers, Ji-Zhong Zou, Cheng-Yu Liu, Matthew Might, Steven Rodems, Wei Zheng; Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene. Stem Cell Res. 34:101362-101362(2019)
Cell line databases/resources	hPSCreg; TRNDi002-B
Encyclopedic resources	Wikidata; Q98133573
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	11