ID   NDi004-C
SY   KB-1-ND-iPSC c8
DR   hPSCreg; NDi004-C
DR   Wikidata; Q110433097
RX   PubMed=35550987;
CC   From: University of Notre Dame; Notre Dame; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7133; KMT2D; Simple; p.Arg4198Ter (c.12592C>T); ClinVar=VCV000158722; Zygosity=Heterozygous (PubMed=35550987).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C124837; Kabuki syndrome
DI   ORDO; Orphanet_2322; Kabuki syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_B5IW ! NDi004-A
OI   CVCL_B5IX ! NDi004-B
SX   Male
AG   7Y11M
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 5
RX   PubMed=35550987; DOI=10.1016/j.scr.2022.102799;
RA   Lager T.W., Zuo J.-J., Alam M.S., Calhoun B., Haldar K.,
RA   Panopoulos A.D.;
RT   "Generation of three induced pluripotent stem cell lines from a
RT   patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation.";
RL   Stem Cell Res. 62:102799-102799(2022).