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Cellosaurus GM16192 (CVCL_CV43)

[Text version]
Cell line name GM16192
Accession CVCL_CV43
Resource Identification Initiative To cite this cell line use: GM16192 (RRID:CVCL_CV43)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3622; FKTN; Simple; p.Ile129Ter (c.385delA) (p.Ile129fs*1); Zygosity=Heterozygous (Coriell=GM16192).
  • Mutation; HGNC; HGNC:3622; FKTN; Simple; p.Tyr392Ter (c.1176C>A); ClinVar=VCV000969988; Zygosity=Heterozygous (Coriell=GM16192).
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 4 (NCIt: C126741)
Congenital muscular dystrophy, Fukuyama type (ORDO: Orphanet_272)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM16192
Cell line databases/resources CLO; CLO_0019360
Encyclopedic resources Wikidata; Q54848352
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12