ID   KMUGMCi008-A
AC   CVCL_D6PT
SY   KN695
DR   BioSamples; SAMEA115043950
DR   hPSCreg; KMUGMCi008-A
CC   From: Kanazawa Medical University; Uchinada; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 17582; KAT6B; Simple; p.Gln1737Hisfs*41 (c.5201_5210dupTGCTGCAGCA); ClinVar=VCV000039002; Zygosity=Heterozygous; Note=De novo mutation (hPSCreg=KMUGMCi008-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206524; Ohdo syndrome, SBBYS variant
DI   ORDO; Orphanet_3047; Blepharophimosis-intellectual disability syndrome, SBBYS type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
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