ID   UMILi005-A
AC   CVCL_YC69
SY   KAB05
DR   BioSamples; SAMEA6032590
DR   hPSCreg; UMILi005-A
DR   Wikidata; Q98134162
CC   From: University of Milan; Milan; Italy.
CC   Sequence variation: Mutation; HGNC; 7133; KMT2D; Simple; p.Arg3321Ter (c.9961C>T); ClinVar=VCV000183371; Zygosity=Unspecified (hPSCreg=UMILi005-A).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C124837; Kabuki syndrome
DI   ORDO; Orphanet_2322; Kabuki syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 8
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