ID   GM25978
AC   CVCL_VJ21
DR   Coriell; GM25978
DR   Wikidata; Q93932205
CC   Population: Caucasian; Mennonite.
CC   Sequence variation: Mutation; HGNC; HGNC:2340; CRADD; Simple; p.Gly128Arg (c.382G>C); ClinVar=VCV000030360; Zygosity=Homozygous (Coriell=GM25978).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C153179; Mental retardation, autosomal recessive 34
DI   ORDO; Orphanet_88616; Autosomal recessive non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   14Y
CA   Finite cell line
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 10
//