ID   GM27939
AC   CVCL_C7L6
SY   GM27939*B; CIMRi004-A
DR   Coriell; GM27939
DR   BioSamples; SAMEA112941191
DR   hPSCreg; CIMRi004-A
DR   Wikidata; Q117704350
CC   Population: Caucasian; German/Irish.
CC   Sequence variation: Mutation; HGNC; 19743; POMT2; Simple; p.Gly353Ser (c.1057G>A); ClinVar=VCV000003231; Zygosity=Homozygous (Coriell=GM27939).
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)
HI   CVCL_AZ52 ! GM24374
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 30-01-24; Version: 4
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