ID   GM24375
AC   CVCL_AZ53
DR   Coriell; GM24375
DR   Wikidata; Q54853743
CC   Population: Caucasian; German/Irish.
CC   Sequence variation: Mutation; HGNC; HGNC:19743; POMT2; Simple; p.Gly353Ser (c.1057G>A); ClinVar=VCV000003231; Zygosity=Homozygous (Coriell=GM24375).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126690; Congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2
DI   ORDO; Orphanet_370968; Congenital muscular dystrophy with intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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