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Cellosaurus JSPHi001-A (CVCL_A7JD)

[Text version]
Cell line name JSPHi001-A
Accession CVCL_A7JD
Resource Identification Initiative To cite this cell line use: JSPHi001-A (RRID:CVCL_A7JD)
Comments From: Division of Cardiology, The First Affiliated Hospital of Nanjing Medical University; Nanjing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6636; LMNA; Simple; p.Arg335Trp (c.1003C>T); ClinVar=VCV000036473; Zygosity=Heterozygous (PubMed=33887581).
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 46Y
Category Induced pluripotent stem cell

PubMed=33887581; DOI=10.1016/j.scr.2021.102349
Zhang Y.-K., Zhu Y., Lin Y.-P., Liu H.-L., Chen H.-W., Ju W.-Z., Cui C., Chen M.-L.
Establishment of an iPSC line (JSPHi001-A) from a patient with familial dilated cardiomyopathy and atrial fibrillation caused by LMNA missense mutation (c.1003C > T).
Stem Cell Res. 53:102349-102349(2021)

Cell line databases/resources hPSCreg; JSPHi001-A
Encyclopedic resources Wikidata; Q107115509
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4