ID   GM29256
AC   CVCL_D6WT
SY   GM29256*B
DR   Coriell; GM29256
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6884; MAPK8IP3; Simple; c.2451+1G>A; Zygosity=Unspecified; Note=Splice donor mutation (Coriell=GM29256).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206532; Neurodevelopmental disorder with or without variable brain abnormalities
DI   ORDO; Orphanet_528084; Non-specific syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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