Cellosaurus cell line JSPHi003-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; JSPHi003-A
Encyclopedic resources	Wikidata; Q114311790
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5