ID   GM29104
AC   CVCL_D3AI
SY   GM29104*B
DR   Coriell; GM29104
DR   Wikidata; Q127380950
CC   Sequence variation: Mutation; HGNC; HGNC:603; APOB; Simple; p.Arg3527Gln (C.10580G>A); ClinVar=VCV000017890; Zygosity=Heterozygous (Coriell=GM29104).
CC   Sequence variation: Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Ile698Metfs*5 (c.2094delT); ClinVar=VCV002672076; Zygosity=Heterozygous (Coriell=GM29104).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C163754; Mental retardation, autosomal dominant 40
DI   NCIt; C176014; Hypercholesterolemia, familial, 2
DI   ORDO; Orphanet_178469; Autosomal dominant non-syndromic intellectual disability
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
//