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Cellosaurus TRNDi010-D-1 (CVCL_B5GJ)

[Text version]
Cell line name TRNDi010-D-1
Synonyms NGLY X401R M4; NCATS-CL6104
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; 17646; NGLY1; Simple; p.Arg401Ter (c.1201A>T); ClinVar=VCV000050962; Zygosity=Heterozygous (PubMed=34619643).
  • Mutation; 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
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)

Cross-references
Cell line databases/resources hPSCreg; TRNDi010-D-1
Encyclopedic resources Wikidata; Q110433290
Entry history
Entry creation16-Dec-2021
Last entry update05-Oct-2023
Version number5