ID   GM29325
AC   CVCL_D6X1
SY   GM29325*B
DR   Coriell; GM29325
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Trp390Ter (c.1169C>G); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM29325).
CC   Sequence variation: Mutation; HGNC; HGNC:4135; GALT; Simple; p.Lys285Asn (c.855G>T); ClinVar=VCV000003621; Zygosity=Heterozygous (Coriell=GM29325).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84723; Galactosemia
DI   NCIt; C163754; Mental retardation, autosomal dominant 40
DI   ORDO; Orphanet_352; Galactosemia
DI   ORDO; Orphanet_178469; Autosomal dominant non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_D6X0 ! GM28396
SX   Male
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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