Cellosaurus cell line SHCDNRi001-A (CVCL

Cross-references
Cell line name	SHCDNRi001-A
Synonyms	IPS-51
Accession	CVCL_ZA37
Resource Identification Initiative	To cite this cell line use: SHCDNRi001-A (RRID:CVCL_ZA37)
Comments	From: Department of Nephrology and Rheumatology, Shanghai Children's Hospital; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2207; COL4A5; Simple; p.Gly409Ser (c.1225G>A); ClinVar=VCV000975073; Zygosity=Heterozygous (PubMed=32416580).
Disease	Alport syndrome (NCIt: C34842) Alport syndrome (ORDO: Orphanet_63)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	40Y
Category	Induced pluripotent stem cell
Publications	PubMed=32416580; DOI=10.1016/j.scr.2020.101833 Lei Sun, Jing Zhang, Xin-Yu Kuang, Yu-Lin Kang, Ying Wu, Wen-Yan Huang; Generation of an induced pluripotent stem cell line (SHCDNRi001-A) from a patient with X-linked Alport syndrome carrying a heterozygous p.G409S (c.1225 G > A) mutation in the COL4A5 gene. Stem Cell Res. 45:101833-101833(2020)
Cell line databases/resources	hPSCreg; SHCDNRi001-A SKIP; SKIP005799
Biological sample resources	BioSamples; SAMEA6762569
Encyclopedic resources	Wikidata; Q98132504
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8