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Cellosaurus SHIPMi001-A (CVCL_B0JP)

[Text version]
Cell line name SHIPMi001-A
Synonyms SHIi001
Accession CVCL_B0JP
Resource Identification Initiative To cite this cell line use: SHIPMi001-A (RRID:CVCL_B0JP)
Comments From: Shanghai Institute of Precision Medicine, Shanghai Jiao Tong University School of Medicine; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7551; MYBPC3; Simple; p.Leu460Trpfs*6 (c.1377delC); ClinVar=VCV000188548; Zygosity=Heterozygous (PubMed=34785479).
Disease Familial hypertrophic cardiomyopathy type 4 (NCIt: C133725)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 56Y
Category Induced pluripotent stem cell
Publications

PubMed=34785479; DOI=10.1016/j.scr.2021.102594
Wang Y., Xiong W.-Y., Zhao S.-X., Li B., Chang A.C.-Y.
Generation of two induced pluripotent stem cell lines, SHIPMi001-A from a patient with hypertrophic cardiomyopathy caused by MYBPC3 gene mutation and SHIPMi002-A from a healthy male individual.
Stem Cell Res. 57:102594-102594(2021)

Cross-references
Cell line databases/resources hPSCreg; SHIPMi001-A
Biological sample resources BioSamples; SAMEA9676225
Encyclopedic resources Wikidata; Q108821303
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number5