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Cellosaurus LANCEi021-A (CVCL_A9AD)

[Text version]
Cell line name LANCEi021-A
Synonyms IPSC2; iPS-2; iPS-MFS1
Accession CVCL_A9AD
Resource Identification Initiative To cite this cell line use: LANCEi021-A (RRID:CVCL_A9AD)
Comments From: National Laboratory of Embryonic Stem Cell (LaNCE), University of Sao Paulo; Sao Paulo; Brazil.
Omics: SNP array analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Cell type: Erythroblast; CL=CL_0000765.
Sequence variations
  • Mutation; HGNC; 3603; FBN1; Simple; p.Tyr2272Asp (c.6814T>G); Zygosity=Heterozygous (PubMed=34062330).
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 40Y
Category Induced pluripotent stem cell
Publications

PubMed=34062330; DOI=10.1016/j.scr.2021.102407
Borsoi J., Morato-Marques M., Tofoli de Araujo F., Pereira L.A., Farinha-Arcieri L.E., Sarafian R.D., Alvarez Perez A.B., Pereira L.V.
Generation of two human induced pluripotent stem cell (hiPSC) lines derived from unrelated Marfan syndrome patients.
Stem Cell Res. 54:102407-102407(2021)

Cross-references
Cell line databases/resources hPSCreg; LANCEi021-A
Encyclopedic resources Wikidata; Q108820666
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number4