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Cellosaurus CMCi011-A (CVCL_D0D4)

[Text version]
Cell line name CMCi011-A
Synonyms CMC-DENT-001
Accession CVCL_D0D4
Resource Identification Initiative To cite this cell line use: CMCi011-A (RRID:CVCL_D0D4)
Comments From: The Catholic University of Korea; Seoul; South Korea.
Population: Asian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2023; CLCN5; Simple; c.1347+1G>A; Zygosity=Hemizygous; Note=Splice donor mutation (PubMed=37356184).
Disease Dent disease (NCIt: C123260)
Dent disease type 1 (ORDO: Orphanet_93622)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=37356184; DOI=10.1016/j.scr.2023.103140
Fang X.-Y., Kim J.H., Cui S., Shin Y.J., Lee H., Ko E.J., Cheong H.I., Kim S., Kim H.S., Kim M., Yang C.W., Lim S.W., Chung B.H.
Generation of a human induced pluripotent stem cell line from a patient with dent disease.
Stem Cell Res. 71:103140-103140(2023)

Cross-references
Cell line databases/resources hPSCreg; CMCi011-A
Biological sample resources BioSamples; SAMEA112370824
Encyclopedic resources Wikidata; Q123030942
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2