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Cellosaurus TRNDi027-B (CVCL_B5V2)

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Cell line name TRNDi027-B
Synonyms HT237B
Accession CVCL_B5V2
Resource Identification Initiative To cite this cell line use: TRNDi027-B (RRID:CVCL_B5V2)
Comments From: NIH-NCATS-TRND Branch; Rockville; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Pro237Ser (c.709C>T); ClinVar=VCV000021142; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Heterozygous (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_7374 (GM03123)
Sex of cell Female
Age at sampling 9Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; TRNDi027-B
Encyclopedic resources Wikidata; Q112041858
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5