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Cellosaurus TRNDi002-B (CVCL_UL09)

[Text version]
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; 1397; CACNA1S; Simple; p.Thr1354Ser (c.4060A>T); ClinVar=VCV000161208; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 17646; NGLY1; Simple; p.Gln208Ter (c.622C>T); ClinVar=VCV000221578; Zygosity=Heterozygous (PubMed=30612078).
  • Mutation; 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
Li R., Pradhan M., Xu M., Baskfield A., Farkhondeh A., Cheng Y.-S., Beers J.K., Zou J.-H., Liu C.-Y., Might M., Rodems S., Zheng W.
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)

Cross-references
Cell line databases/resources hPSCreg; TRNDi002-B
Encyclopedic resources Wikidata; Q98133573
Entry history
Entry creation25-Feb-2019
Last entry update05-Oct-2023
Version number10