ID   GM27937
AC   CVCL_A5MP
SY   GM27937*B
DR   Coriell; GM27937
DR   Wikidata; Q107115190
CC   Population: Caucasian.
CC   Characteristics: The donor is mosaic for the disease causing KIF1A mutation, this cell line originate from a diseased cell.
CC   Sequence variation: Mutation; HGNC; HGNC:888; KIF1A; Simple; p.Arg203Ser (c.609G>T); Zygosity=Mosaic (Coriell=GM27937).
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)
OI   CVCL_A5MQ ! GM27938
SX   Female
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
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