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Cellosaurus GM27434 (CVCL_A2QH)

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Cell line name GM27434
Accession CVCL_A2QH
Resource Identification Initiative To cite this cell line use: GM27434 (RRID:CVCL_A2QH)
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:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM27434).
  • Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Leu257Arg (c.770T>G); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27434).
  • Mutation; HGNC; HGNC:8656; PCDH11X; Simple; p.Asp1111Asn (c.3331G>A); Zygosity=Hemizygous (Coriell=GM27434).
Disease Rett syndrome, congenital variant (NCIt: C176903)
Atypical Rett syndrome (ORDO: Orphanet_3095)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27434
Encyclopedic resources Wikidata; Q105507171
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6