Cellosaurus cell line SDUBMSi008-A (CVCL

Cross-references
Cell line name	SDUBMSi008-A
Synonyms	COL4A5-WRD
Accession	CVCL_A7GF
Resource Identification Initiative	To cite this cell line use: SDUBMSi008-A (RRID:CVCL_A7GF)
Comments	From: School of Basic Medical Sciences, Shandong University; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:2207; COL4A5; Simple; p.Arg266Ter (c.796C>T); ClinVar=VCV000024325; Zygosity=Hemizygous (PubMed=33878711).
Disease	Alport syndrome (NCIt: C34842) Alport syndrome (ORDO: Orphanet_63)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	26Y
Category	Induced pluripotent stem cell
Publications	PubMed=33878711; DOI=10.1016/j.scr.2021.102343 Ma Y.-Y., Wang Z.-D., Gao M., Liu X.-L., Sun W.-J., Gong Y.-Q., Sun G.-P., Liu G.-Y. Generation of two induced pluripotent stem cell lines from patients with X-linked Alport syndrome. Stem Cell Res. 53:102343-102343(2021)
Cell line databases/resources	hPSCreg; SDUBMSi008-A
Encyclopedic resources	Wikidata; Q107116904
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5