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Cellosaurus GM26037 (CVCL_HQ52)

[Text version]
Cell line name GM26037
Accession CVCL_HQ52
Resource Identification Initiative To cite this cell line use: GM26037 (RRID:CVCL_HQ52)
Comments Population: Caucasian.
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.Arg174Ter (c.520C>T); ClinVar=VCV000235853; Zygosity=Heterozygous (Coriell=GM26037).
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_HQ53 ! GM26038
Sex of cell Male
Age at sampling 11Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26037
Encyclopedic resources Wikidata; Q54854064
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12