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Cellosaurus BRCi021-A (CVCL_B7ES)

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Cell line name BRCi021-A
Synonyms hiPSC-TUH001; TUH1
Accession CVCL_B7ES
Resource Identification Initiative To cite this cell line use: BRCi021-A (RRID:CVCL_B7ES)
Comments From: RIKEN BioResource Research Center; Kyoto; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Tyr267Ter (c.801T>A); Zygosity=Heterozygous (PubMed=35500377).
Disease Dilated cardiomyopathy-1A (NCIt: C165596)
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (ORDO: Orphanet_300751)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 49Y
Category Induced pluripotent stem cell
Publications

PubMed=35500377; DOI=10.1016/j.scr.2022.102793
Yuzuno Shimoda, Nobuyuki Murakoshi, Haruka Mori, Dong-Zhu Xu, Kazuko Tajiri, Yasuko Hemmi, Iori Sato, Michiya Noguchi, Yukio Nakamura, Yohei Hayashi, Masaki Ieda;
Generation of a human induced pluripotent stem cell line derived from a patient with dilated cardiomyopathy carrying LMNA nonsense mutation.
Stem Cell Res. 62:102793-102793(2022)

Cross-references
Cell line databases/resources hPSCreg; BRCi021-A
Biological sample resources BioSamples; SAMEA13409766
Encyclopedic resources Wikidata; Q112929346
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6