Cellosaurus cell line GRCHJUi001-C (CVCL

Entry history
Cell line name	GRCHJUi001-C
Synonyms	LYJ-iPS-C6
Accession	CVCL_D6N5
Resource Identification Initiative	To cite this cell line use: GRCHJUi001-C (RRID:CVCL_D6N5)
Comments	From: Guangzhou Red Cross Hospital of Jinan University; Guangzhou; China. Population: Chinese; Han. Derived from site: In situ; Urine; UBERON=UBERON_0001088. Cell type: Epithelial cell of kidney; CL=CL_0002518.
Sequence variations	Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Ser209Pro (c.625T>C); ClinVar=VCV000067094; Zygosity=Heterozygous (PubMed=38341987).
Disease	Atrial fibrillation (NCIt: C50466) Familial atrial fibrillation (ORDO: Orphanet_334)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_D6N3 ! GRCHJUi001-A CVCL_D6N4 ! GRCHJUi001-B CVCL_D6N6 ! GRCHJUi001-D
Sex of cell	Male
Age at sampling	18Y
Category	Induced pluripotent stem cell
Publications	PubMed=38341987; DOI=10.1016/j.scr.2024.103336 Cen Y.-G., Zhou T.-C., Chen S.-S., Deng Z.-Y., Wang J.-S., Ma N., Zhang S.-H. Generation of an induced pluripotent stem cell line from patient with atrial fibrillation with KCNQ1 p.Ser209Pro mutation. Stem Cell Res. 76:103336-103336(2024)
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2