Cellosaurus logo
expasy logo

Cellosaurus GM26023 (CVCL_A2VA)

[Text version]
Cell line name GM26023
Accession CVCL_A2VA
Resource Identification Initiative To cite this cell line use: GM26023 (RRID:CVCL_A2VA)
Comments Population: Caucasian; English.
Derived from site: In situ; Back, skin; UBERON=UBERON_0001068.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11634; TCF4; Simple; p.Ala614Val (c.1841C>T) (p.Ala610Val, c.1829C>T); ClinVar=VCV000581714; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM26023).
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_D2Z8 ! GM26068
Sex of cell Male
Age at sampling 8Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM26023
Encyclopedic resources Wikidata; Q105506974
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7