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Cellosaurus GM27203 (CVCL_YN30)

[Text version]
Cell line name GM27203
Accession CVCL_YN30
Resource Identification Initiative To cite this cell line use: GM27203 (RRID:CVCL_YN30)
Comments Population: Caucasian; Dutch.
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.Arg157Glufs*77 (c.469delC); ClinVar=VCV000589268; Zygosity=Heterozygous (Coriell=GM27203).
Disease Pitt-Hopkins syndrome (NCIt: C129872)
Pitt-Hopkins syndrome (ORDO: Orphanet_2896)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27203
Encyclopedic resources Wikidata; Q93933074
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9