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Cellosaurus ISMMSi002-A (CVCL_QX45)

[Text version]
Cell line name ISMMSi002-A
Synonyms MFS60-12
Accession CVCL_QX45
Resource Identification Initiative To cite this cell line use: ISMMSi002-A (RRID:CVCL_QX45)
Comments From: Icahn School of Medicine at Mount Sinai; New York; USA.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3603; FBN1; Simple; p.Cys1361Tyr (c.4082G>A); ClinVar=VCV000519726; Zygosity=Heterozygous (from parent cell line).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_HK33 (GM21960)
Sex of cell Female
Age at sampling 28Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; ISMMSi002-A
Biological sample resources BioSamples; SAMEA104275578
Encyclopedic resources Wikidata; Q54898308
Entry history
Entry creation15-Nov-2017
Last entry update29-Jun-2023
Version number11