ID   GM28967
AC   CVCL_D2ZN
SY   GM28967*B
DR   Coriell; GM28967
DR   Wikidata; Q127380945
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:888; KIF1A; Simple_corrected; p.Pro305Leu (c.914C>T); ClinVar=VCV000428604; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (Coriell=GM28967).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C133742; Mental retardation, autosomal dominant 9
DI   ORDO; Orphanet_178469; Autosomal dominant non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A2TN ! GM27933
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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