ID   GM16192
AC   CVCL_CV43
DR   CLO; CLO_0019360
DR   Coriell; GM16192
DR   Wikidata; Q54848352
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3622; FKTN; Simple; p.Ile129Ter (c.385delA) (p.Ile129fs*1); Zygosity=Heterozygous (Coriell=GM16192).
CC   Sequence variation: Mutation; HGNC; HGNC:3622; FKTN; Simple; p.Tyr392Ter (c.1176C>A); ClinVar=VCV000969988; Zygosity=Heterozygous (Coriell=GM16192).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126741; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 4
DI   ORDO; Orphanet_272; Congenital muscular dystrophy, Fukuyama type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1M
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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