ID   GM29471
AC   CVCL_F0ZD
SY   GM29471*B
DR   Coriell; GM29471
CC   Sequence variation: Mutation; HGNC; HGNC:19743; POMT2; Simple; p.Phe221Ile (c.661T>A); ClinVar=VCV000807153; Zygosity=Homozygous (Coriell=GM29471).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126742; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2
DI   ORDO; Orphanet_899; Walker-Warburg syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_BX12 ! GM23824
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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