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Cellosaurus UCLi025-A (CVCL_D6NT)

[Text version]
Cell line name UCLi025-A
Synonyms ABHD12 c.193C>T
Accession CVCL_D6NT
Resource Identification Initiative To cite this cell line use: UCLi025-A (RRID:CVCL_D6NT)
Comments From: University College London; London; United Kingdom.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:15868; ABHD12; Simple; p.Arg65Ter (c.193C>T); ClinVar=VCV000438130; Zygosity=Homozygous (hPSCreg=UCLi025-A).
Disease Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (NCIt: C206116)
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome (ORDO: Orphanet_171848)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 42Y
Category Induced pluripotent stem cell
Web pages https://data.mendeley.com/datasets/knr3ctxj8d/1
Cross-references
Cell line databases/resources hPSCreg; UCLi025-A
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2