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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.
Derived from sampling site: Skin.
Sequence variations Heterozygous for CACNA1S p.Thr1354Ser (c.4060A>T) (from parent cell line).
Heterozygous for NGLY1 p.Gln208Ter (c.622C>T) and p.Gly310Gly (c.930C>T) (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

PubMed=30612078; DOI=10.1016/j.scr.2018.101362
Li R., Pradhan M., Xu M., Baskfield A., Farkhondeh A., Cheng Y.-S., Beers J., Zou J., Liu C., 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)

Cell line databases/resources hPSCreg; TRNDi002-B
Entry history
Entry creation25-Feb-2019
Last entry updated12-Mar-2020
Version number2