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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; 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
Xian-Ying Fang, Ji Hyun Kim, Sheng Cui, Yoo Jin Shin, Hanbi Lee, Eun Jeong Ko, Hae Il Cheong, Sejoong Kim, Hoon Seok Kim, Myungshin Kim, Chul Woo Yang ...Show all 13 authors... , Sun Woo Lim, Byung Ha Chung; Show fewer authors
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 update19-Dec-2024
Version number3