ID   GM28888
AC   CVCL_D6Z2
SY   GM28888*B
DR   Coriell; GM28888
CC   Population: Caucasian and Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:19998; TNPO2; Simple; p.Asp156Asn (c.466G>A); ClinVar=VCV001299679; Zygosity=Heterozygous (Coriell=GM28888).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C210890; Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5M
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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