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Cellosaurus GM27325 (CVCL_YN13)

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Cell line name GM27325
Accession CVCL_YN13
Resource Identification Initiative To cite this cell line use: GM27325 (RRID:CVCL_YN13)
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:13830; CNTNAP2; Simple; p.Ser269Asn (c.806G>A); ClinVar=VCV000373714; Zygosity=Heterozygous (Coriell=GM27325).
  • Mutation; HGNC; HGNC:3791; FOLR1; Simple; c.493+2T>C (IVS4+2T>C); ClinVar=VCV000095750; Zygosity=Heterozygous (Coriell=GM27325).
  • Mutation; HGNC; HGNC:3811; FOXG1; Simple; p.Gly224Ser (c.670G>A); ClinVar=VCV000167092; Zygosity=Heterozygous (Coriell=GM27325).
  • Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Pro8Thr (c.22C>A); ClinVar=VCV000205598; Zygosity=Heterozygous (Coriell=GM27325).
Disease Rett syndrome, congenital variant (NCIt: C176903)
Atypical Rett syndrome (ORDO: Orphanet_3095)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_WP04 ! GM27300
Sex of cell Female
Age at sampling 2Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27325
Encyclopedic resources Wikidata; Q93933160
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9