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Cellosaurus GM28386 (CVCL_C0LW)

[Text version]
Cell line name GM28386
Accession CVCL_C0LW
Resource Identification Initiative To cite this cell line use: GM28386 (RRID:CVCL_C0LW)
Comments Population: Caucasian.
Derived from site: In situ; Labioscrotal fold, skin; UBERON=UBERON_8480029.
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; Note=De novo mutation (Coriell=GM28386).
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_C0LX ! GM28387
Sex of cell Male
Age at sampling 6Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28386
Encyclopedic resources Wikidata; Q112929608
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6