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Cellosaurus CMCi001-A (CVCL_ZX45)

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Cell line name CMCi001-A
Synonyms CMC-KIN-hiPSCs; KMC-KIN-hiPSCs; KMC-KIN-hiPSC
Accession CVCL_ZX45
Resource Identification Initiative To cite this cell line use: CMCi001-A (RRID:CVCL_ZX45)
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:29170; FAN1; Simple; p.Gly663Ilefs*54 (c.1985_1994del10); Zygosity=Homozygous (PubMed=32563974).
Disease Karyomegalic interstitial nephritis (NCIt: C173626)
Karyomegalic interstitial nephritis (ORDO: Orphanet_401996)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 42Y
Category Induced pluripotent stem cell
Publications

PubMed=32563974; DOI=10.1016/j.scr.2020.101876
Do Hyun Na, Sun Woo Lim, Bo-Mi Kim, Kyoung Woon Kim, Yoo Jin Shin, Hyojin Chae, Eun Jeong Ko, Chul Woo Yang, Myungshin Kim, Byung Ha Chung;
Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-associated nuclease 1 gene.
Stem Cell Res. 46:101876-101876(2020)

Cross-references
Cell line databases/resources hPSCreg; CMCi001-A
SKIP; SKIP005764
Biological sample resources BioSamples; SAMEA7807652
Encyclopedic resources Wikidata; Q102113693
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7