ID   GM24588
AC   CVCL_BX20
DR   Coriell; GM24588
DR   Wikidata; Q54853789
CC   Sequence variation: Mutation; HGNC; HGNC:17997; FKRP; Simple; p.Leu276Ile (c.826C>A); ClinVar=VCV000004221; Zygosity=Heterozygous (Coriell=GM24588).
CC   Sequence variation: Mutation; HGNC; HGNC:17997; FKRP; Simple; p.Lys291Argfs*137 (c.872delA); Zygosity=Heterozygous (Coriell=GM24588).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C126739; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5
DI   ORDO; Orphanet_34515; FKRP-related limb-girdle muscular dystrophy R9
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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