Cellosaurus logo
expasy logo

Cellosaurus GM26258 (CVCL_YP70)

[Text version]
Cell line name GM26258
Accession CVCL_YP70
Resource Identification Initiative To cite this cell line use: GM26258 (RRID:CVCL_YP70)
Comments Population: Caucasian and Native North American.
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.Arg576Ter (c.1726C>T) (p.Arg572Ter, c.1714C>T); ClinVar=VCV000488988; Zygosity=Heterozygous (Coriell=GM26258).
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_VI95 ! GM26580
Sex of cell Female
Age at sampling 15Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26258
Encyclopedic resources Wikidata; Q93932636
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9