ID   CCD-SeV-iPS1
AC   CVCL_YT62
DR   Wikidata; Q93445295
RX   PubMed=26559068;
CC   Sequence variation: Mutation; HGNC; HGNC:10472; RUNX2; Simple; p.Arg225Gln (c.674G>A); ClinVar=VCV000009302; Zygosity=Heterozygous (PubMed=26559068).
CC   Derived from site: In situ; Tooth, dental pulp; UBERON=UBERON_0001754.
DI   NCIt; C75020; Cleidocranial dysplasia
DI   ORDO; Orphanet_1452; Cleidocranial dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=26559068; DOI=10.1007/s11626-015-9968-x; PMCID=PMC4746228;
RA   Yamasaki S., Hamada A., Akagi E., Nakatao H., Ohtaka M., Nishimura K.,
RA   Nakanishi M., Toratani S., Okamoto T.;
RT   "Generation of cleidocranial dysplasia-specific human induced
RT   pluripotent stem cells in completely serum-, feeder-, and
RT   integration-free culture.";
RL   In Vitro Cell. Dev. Biol. Anim. 52:252-264(2016).
//