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Cellosaurus SDUBMSi006-A (CVCL_A7GD)

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Cell line name SDUBMSi006-A
Synonyms COL4A3-WB
Accession CVCL_A7GD
Resource Identification Initiative To cite this cell line use: SDUBMSi006-A (RRID:CVCL_A7GD)
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:2204; COL4A3; Simple; p.Gly1406Arg (c.4216G>A); Zygosity=Heterozygous (PubMed=33601099).
  • Mutation; HGNC; HGNC:2204; COL4A3; Simple; p.Gly1415Arg (c.4243G>A); Zygosity=Heterozygous (PubMed=33601099).
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 26Y
Category Induced pluripotent stem cell
Publications

PubMed=33601099; DOI=10.1016/j.scr.2021.102237
Yan-Yan Ma, Zhen-Dong Wang, Xiao-Lin Liu, Wen-Jie Sun, Yao-Qin Gong, Guang-Yi Liu, Gong-Ping Sun;
Generation and characterization of an integration-free iPSC line SDUBMSi006-A from a patient with Alport syndrome caused by COL4A3 gene mutations.
Stem Cell Res. 52:102237-102237(2021)

Cross-references
Cell line databases/resources hPSCreg; SDUBMSi006-A
Encyclopedic resources Wikidata; Q107116902
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5