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Cellosaurus ICSSUi001-A (CVCL_B5IL)

[Text version]
Cell line name ICSSUi001-A
Synonyms FBN1-C2633G-iPSC
Accession CVCL_B5IL
Resource Identification Initiative To cite this cell line use: ICSSUi001-A (RRID:CVCL_B5IL)
Comments From: Institute for Cardiovascular Science of Soochow University; Suzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3603; FBN1; Simple; p.Cys2633Gly (c.7897T>G); ClinVar=VCV000984411; Zygosity=Heterozygous (PubMed=35231796).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 15Y
Category Induced pluripotent stem cell
Publications

PubMed=35231796; DOI=10.1016/j.scr.2022.102720
Yu Y., Shen H., Zhu J.-Z., Cao X.-Y., Li Q., Shao L.-B., Shen Z.-Y.
Generation of Marfan patient specific iPSCs (ICSSUi001-A) carrying a novel heterozygous mutation in FBN1 gene.
Stem Cell Res. 60:102720-102720(2022)

Cross-references
Cell line databases/resources hPSCreg; ICSSUi001-A
Biological sample resources BioSamples; SAMEA8286668
Encyclopedic resources Wikidata; Q110432917
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number5