Cellosaurus logo
expasy logo

Cellosaurus GM25936 (CVCL_HK83)

[Text][XML][JSON]
Cell line name GM25936
Accession CVCL_HK83
Resource Identification Initiative To cite this cell line use: GM25936 (RRID:CVCL_HK83)
Comments Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Gly12Valfs*2 (c.35delG); ClinVar=VCV000017004; Zygosity=Heterozygous (Coriell=GM25936).
  • Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Met34Thr (c.101T>C); ClinVar=VCV000017000; Zygosity=Heterozygous (Coriell=GM25936).
  • Mutation; HGNC; HGNC:12403; TTN; Simple; p.Val10952Leu (c.32854G>C) (p.Val13520Leu, c.40558G>C); ClinVar=VCV000130666; Zygosity=Heterozygous (Coriell=GM25936).
  • Mutation; HGNC; HGNC:12403; TTN; Simple; c.39893-1G>A (IVS192-1G>A) (c.37112-1G>A, IVS191-1G>A); ClinVar=VCV000202368; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM25936).
Disease Centronuclear myopathy 1 (NCIt: C126689)
Deafness, autosomal recessive 1A (NCIt: C129022)
Autosomal recessive non-syndromic sensorineural deafness type DFNB (ORDO: Orphanet_90636)
Autosomal dominant centronuclear myopathy (ORDO: Orphanet_169189)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_BV66 ! GM23417
Sex of cell Male
Age at sampling 14Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25936
Encyclopedic resources Wikidata; Q54854030
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number14