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Cellosaurus Rev1-iPSC (CVCL_A4TS)

[Text version]
Cell line name Rev1-iPSC
Accession CVCL_A4TS
Resource Identification Initiative To cite this cell line use: Rev1-iPSC (RRID:CVCL_A4TS)
Comments From: Department of Biochemistry, Tokyo Dental College; Tokyo; Japan.
Derived from site: In situ; Oral cavity, oral mucosa; UBERON=UBERON_0003729.
Sequence variations
  • Mutation; HGNC; HGNC:10472; RUNX2; Simple_corrected; p.Arg391Ter (c.1171C>T); ClinVar=VCV000065625; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=29357927).
Disease Cleidocranial dysplasia (NCIt: C75020)
Cleidocranial dysplasia (ORDO: Orphanet_1452)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A4TH (CCD1-iPS 2)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=29357927; DOI=10.1186/s13287-017-0754-4; PMCID=PMC5778688
Saito A., Ooki A., Nakamura T., Onodera S., Hayashi K., Hasegawa D., Okudaira T., Watanabe K., Kato H., Onda T., Watanabe A., Kosaki K., Nishimura K., Ohtaka M., Nakanishi M., Sakamoto T., Yamaguchi A., Sueishi K., Azuma T.
Targeted reversion of induced pluripotent stem cells from patients with human cleidocranial dysplasia improves bone regeneration in a rat calvarial bone defect model.
Stem Cell Res. Ther. 9:12.1-12.10(2018)

Cross-references
Cell line databases/resources SKIP; SKIP003022
Encyclopedic resources Wikidata; Q107116736
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5