ID   GM23630
AC   CVCL_BX03
DR   Coriell; GM23630
DR   Wikidata; Q54853167
CC   Sequence variation: Mutation; HGNC; HGNC:17997; FKRP; Simple; p.Leu276Ile (c.826C>A); ClinVar=VCV000004221; Zygosity=Homozygous (Coriell=GM23630).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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)
OI   CVCL_BX13 ! GM23868
SX   Female
AG   38Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 11
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