ID   GM27978
AC   CVCL_A5MR
SY   GM27978*B
DR   Coriell; GM27978
DR   Wikidata; Q107115193
CC   Population: Caucasian and Native North American; Alaskan.
CC   Sequence variation: Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Ser181Cysfs*5 (c.542_543delCT); ClinVar=VCV000217909; Zygosity=Heterozygous (Coriell=GM27978).
CC   Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C163754; Mental retardation, autosomal dominant 40
DI   ORDO; Orphanet_178469; Autosomal dominant non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_XC44 ! GM27408
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 7
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