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Cellosaurus GM26580 (CVCL_VI95)

[Text version]
Cell line name GM26580
Accession CVCL_VI95
Resource Identification Initiative To cite this cell line use: GM26580 (RRID:CVCL_VI95)
Comments Population: Caucasian and Native North American.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Arg576Ter (c.1726C>T) (p.Arg572Ter, c.1714C>T); ClinVar=VCV000488988; Zygosity=Heterozygous (Coriell=GM26580).
Disease Pitt-Hopkins syndrome (NCIt: C129872)
Pitt-Hopkins syndrome (ORDO: Orphanet_2896)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YP70 ! GM26258
Sex of cell Female
Age at sampling 7Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM26580
Encyclopedic resources Wikidata; Q93932688
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number12