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Cellosaurus TRNDi001-C (CVCL_UL06)

[Text version]
Cell line name TRNDi001-C
Synonyms HT307C
Accession CVCL_UL06
Resource Identification Initiative To cite this cell line use: TRNDi001-C (RRID:CVCL_UL06)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Homozygous (from parent cell line).
Disease Niemann-Pick disease, type C1 (NCIt: C126864)
Niemann-Pick disease type C (ORDO: Orphanet_646)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_DA78 (GM18453)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; TRNDi001-C
Encyclopedic resources Wikidata; Q98133570
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number8