ID   CCD2-iPS 9
AC   CVCL_A4TN
DR   SKIP; SKIP003021
DR   Wikidata; Q107114620
RX   PubMed=29357927;
CC   From: Department of Biochemistry, Tokyo Dental College; Tokyo; Japan.
CC   Sequence variation: Mutation; HGNC; HGNC:10472; RUNX2; Simple; p.Gln67Ter (c.199C>T); Zygosity=Heterozygous (PubMed=29357927).
CC   Derived from site: In situ; Oral cavity, oral mucosa; UBERON=UBERON_0003729.
DI   NCIt; C75020; Cleidocranial dysplasia
DI   ORDO; Orphanet_1452; Cleidocranial dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4TK ! CCD2-iPS 4
OI   CVCL_A4TL ! CCD2-iPS 7
OI   CVCL_A4TM ! CCD2-iPS 8
OI   CVCL_A4TP ! CCD2-iPS 12
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=29357927; DOI=10.1186/s13287-017-0754-4; PMCID=PMC5778688;
RA   Saito A., Ooki A., Nakamura T., Onodera S., Hayashi K., Hasegawa D.,
RA   Okudaira T., Watanabe K., Kato H., Onda T., Watanabe A., Kosaki K.,
RA   Nishimura K., Ohtaka M., Nakanishi M., Sakamoto T., Yamaguchi A.,
RA   Sueishi K., Azuma T.;
RT   "Targeted reversion of induced pluripotent stem cells from patients
RT   with human cleidocranial dysplasia improves bone regeneration in a rat
RT   calvarial bone defect model.";
RL   Stem Cell Res. Ther. 9:12.1-12.10(2018).
//