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Cellosaurus GRCHJUi001-B (CVCL_D6N4)

[Text version]
Cell line name GRCHJUi001-B
Synonyms LYJ-iPS-C4
Accession CVCL_D6N4
Resource Identification Initiative To cite this cell line use: GRCHJUi001-B (RRID:CVCL_D6N4)
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; 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_D6N5 ! GRCHJUi001-C
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 history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1