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Cellosaurus NCCDFWi001-A (CVCL_YM45)

[Text version]

Cell line name NCCDFWi001-A
Accession CVCL_YM45
Resource Identification Initiative To cite this cell line use: NCCDFWi001-A (RRID:CVCL_YM45)
Comments From: National Center for Cardiovascular Diseases and Fuwai Hospital; Beijing; China.
Population: Han Chinese.
Derived from sampling site: Peripheral blood.
Sequence variations Heterozygous for FBN1 p.Pro228fs (c.684_736+4del) and p.Leu871Phe (c.2613A>C) (PubMed=31901832).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 26Y
Category Induced pluripotent stem cell

PubMed=31901832; DOI=10.1016/j.scr.2019.101690
Ma B.-H., Luo M.-Y., Yang H., Li T.-J., Liu W.-W., Xu F.-X., Shu C., Chen G.-K., Zhou Z.
Generation of a human induced pluripotent stem cell line (NCCDFWi001-A) from a Marfan syndrome patient carrying two FBN1 variants (c.2613A > C and c.684_736 + 4del).
Stem Cell Res. 42:101690-101690(2020)

Cell line databases/resources hPSCreg; NCCDFWi001-A
Other Wikidata; Q95992665
Entry history
Entry creation12-Mar-2020
Last entry update02-Jul-2020
Version number2