ID   GM29271
AC   CVCL_D6WW
SY   GM29271*C
DR   Coriell; GM29271
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6884; MAPK8IP3; Simple; p.Arg578Cys (c.1732C>T) (p.Arg579Cys, c.1735C>T); ClinVar=VCV000632564; Zygosity=Unspecified (Coriell=GM29270).
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   2Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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