ID   GM23363
AC   CVCL_JF24
DR   Coriell; GM23363
DR   Wikidata; Q54853022
CC   Sequence variation: Mutation; HGNC; HGNC:9202; POMT1; Simple; p.Ser29Arg (c.85A>C); Zygosity=Heterozygous (Coriell=GM23363).
CC   Sequence variation: Mutation; HGNC; HGNC:9202; POMT1; Simple; p.Arg622Ter (c.1864C>T); Zygosity=Heterozygous (Coriell=GM23363).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C133730; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 1
DI   ORDO; Orphanet_86812; POMT1-related limb-girdle muscular dystrophy R11
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Finite cell line
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 12
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