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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: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Pro228fs (c.684_736+4del); Zygosity=Heterozygous (PubMed=31901832).
  • Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Leu871Phe (c.2613A>C); ClinVar=VCV000667457; Zygosity=Heterozygous (PubMed=31901832).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C0ER (NCCDFWi001-A-1)
Sex of cell Female
Age at sampling 26Y
Category Induced pluripotent stem cell
Publications

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)

PubMed=34592602; DOI=10.1016/j.scr.2021.102543
Li T.-J., Ma B.-H., Yang H., Zhu G.-Y., Shu C., Luo M.-Y., Zhou Z.
Generation of a CRISPR/Cas9-corrected-hiPSC (NCCDFWi001-A-1) from a Marfan syndrome patient hiPSC with a heterozygous c.2613A>C variant in the fibrillin 1 (FBN1) gene.
Stem Cell Res. 56:102543-102543(2021)

Cross-references
Cell line databases/resources hPSCreg; NCCDFWi001-A
SKIP; SKIP005601
Encyclopedic resources Wikidata; Q95992665
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9