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Cellosaurus ZZUSAHi003-A (CVCL_A3ZF)

[Text version]
Cell line name ZZUSAHi003-A
Accession CVCL_A3ZF
Resource Identification Initiative To cite this cell line use: ZZUSAHi003-A (RRID:CVCL_A3ZF)
Comments From: Zhengzhou University Second Affiliated Hospital; Zhengzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3603; FBN1; Simple; p.Cys980Tyr (c.2939G>A); Zygosity=Heterozygous (PubMed=33450697).
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
Publications

PubMed=33450697; DOI=10.1016/j.scr.2021.102163
Qin Z.-P., Sun L.-Q., Sun X., Gao X.-X., Su H.
Reprogramming of a human induced pluripotent stem cell line from a Marfan syndrome patient harboring a heterozygous mutation of c.2939G > A in FBN1 gene.
Stem Cell Res. 51:102163-102163(2021)

Cross-references
Cell line databases/resources hPSCreg; ZZUSAHi003-A
Encyclopedic resources Wikidata; Q105511894
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number4