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Cellosaurus TRNDi018-B (CVCL_A8RF)

[Text version]
Cell line name TRNDi018-B
Synonyms HT594B
Accession CVCL_A8RF
Resource Identification Initiative To cite this cell line use: TRNDi018-B (RRID:CVCL_A8RF)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: Caucasian; German.
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.Leu318Pro (c.953T>C); Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Arg390Pro (c.1169G>C); ClinVar=VCV000221580; Zygosity=Heterozygous (from parent cell line).
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_RT85 (GM26602)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; TRNDi018-B
Encyclopedic resources Wikidata; Q108821395
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number6