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Cellosaurus SMBCi013-A (CVCL_B3SJ)

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Cell line name SMBCi013-A
Synonyms WD-iPSC
Accession CVCL_B3SJ
Resource Identification Initiative To cite this cell line use: SMBCi013-A (RRID:CVCL_B3SJ)
Comments From: Shandong Medical Biotechnological Center; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations
  • Mutation; HGNC; HGNC:870; ATP7B; Simple; p.Ser975Tyr (c.2924C>A) (p.Ser768Tyr, c.2303C>A); ClinVar=VCV000862055; Zygosity=Heterozygous (PubMed=34995846).
  • Mutation; HGNC; HGNC:870; ATP7B; Simple; p.Arg1319Ter (c.3955C>T) (p.Arg1112Ter, c.3334C>T); ClinVar=VCV000035728; Zygosity=Heterozygous (PubMed=34995846).
Disease Hepatolenticular degeneration (NCIt: C84756)
Wilson disease (ORDO: Orphanet_905)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 29Y
Category Induced pluripotent stem cell
Publications

PubMed=34995846; DOI=10.1016/j.scr.2021.102650
Ya-Nan Zhao, Ya-Zhou Cui, Jing Luan, Jing Wang, Liang Shi, Zhen-Zhong Han, Jin-Xiang Han;
Development and identification of a induced pluripotent stem cells line (SMBCi013-A) derived from urine cells of a patient with Wilson's disease.
Stem Cell Res. 59:102650-102650(2022)

Cross-references
Cell line databases/resources hPSCreg; SMBCi013-A
Biological sample resources BioSamples; SAMEA10107503
Encyclopedic resources Wikidata; Q110433240
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number5