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Cellosaurus GM26068 (CVCL_D2Z8)

[Text version]
Cell line name GM26068
Accession CVCL_D2Z8
Resource Identification Initiative To cite this cell line use: GM26068 (RRID:CVCL_D2Z8)
Comments Population: Caucasian; English.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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=GM26068).
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_A2VA ! GM26023
Sex of cell Male
Age at sampling 8Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26068
Encyclopedic resources Wikidata; Q127380903
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3