Cellosaurus cell line JSPHi001-A (CVCL

Cross-references
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; 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
Publications	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 creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5