ID   GM29608
AC   CVCL_F0ZN
SY   GM29608*B
DR   Coriell; GM29608
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:14214; CIC; Simple; p.Arg1262Ter (c.3784C>T) (p.Arg353Ter, c.1057C>T); ClinVar=VCV000431168; Zygosity=Heterozygous (Coriell=GM29608).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C222355; Intellectual developmental disorder, autosomal dominant 45
DI   ORDO; Orphanet_178469; Autosomal dominant non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Children
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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