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Cellosaurus TRNDi010-B (CVCL_XI87)

[Text version]
Cell line name TRNDi010-B
Synonyms HT592B
Accession CVCL_XI87
Resource Identification Initiative To cite this cell line use: TRNDi010-B (RRID:CVCL_XI87)
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=Homozygous (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_RT93 (GM26612)
Sex of cell Female
Age at sampling 16Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; TRNDi010-B
Encyclopedic resources Wikidata; Q98133604
Entry history
Entry creation19-Dec-2019
Last entry update05-Oct-2023
Version number9