Cellosaurus logo
expasy logo

Cellosaurus JSPHi003-A (CVCL_C1TT)

[Text version]
Cell line name JSPHi003-A
Accession CVCL_C1TT
Resource Identification Initiative To cite this cell line use: JSPHi003-A (RRID:CVCL_C1TT)
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.Ser437Hisfs*2 (c.1304_1307dupGCAC); ClinVar=VCV000066803; Zygosity=Heterozygous (PubMed=36095892).
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 Female
Age at sampling 53Y
Category Induced pluripotent stem cell
Publications

PubMed=36095892; DOI=10.1016/j.scr.2022.102909
Lin Z.-Q., Cheng H.-Y., Zhang Y.-K., Zheng B.-Y., Zhang F., Lin Y.-P., Zhu Y., Ju W.-Z., Cui C., Chen M.-L.
Generation of a human induced pluripotent stem cell line (JSPHi003-A) from a patient with atrial fibrillation and ventricular tachycardia carrying LMNA frame shift mutation (c.1304_1307dup).
Stem Cell Res. 64:102909-102909(2022)

Cross-references
Cell line databases/resources hPSCreg; JSPHi003-A
Encyclopedic resources Wikidata; Q114311790
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4