ID   GM23652
AC   CVCL_BX05
DR   Coriell; GM23652
DR   Wikidata; Q54853197
CC   Sequence variation: Mutation; HGNC; HGNC:6511; LARGE1; Simple; p.Glu509Lys (c.1525G>A); ClinVar=VCV000006216; Zygosity=Heterozygous (Coriell=GM23652).
CC   Sequence variation: Mutation; HGNC; HGNC:6511; LARGE1; Unexplicit; Large deletion; Zygosity=Heterozygous (Coriell=GM23652).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126743; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6
DI   ORDO; Orphanet_370968; Congenital muscular dystrophy with intellectual disability
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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