ID   GM24202
AC   CVCL_BX16
DR   Coriell; GM24202
DR   Wikidata; Q54853623
CC   Sequence variation: Mutation; HGNC; HGNC:19139; POMGNT1; Simple; c.1895+1G>T; ClinVar=VCV000056593; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM24202).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126740; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3
DI   ORDO; Orphanet_899; Walker-Warburg syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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