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Cellosaurus ISMMSi001-B (CVCL_QX75)

[Text version]
Cell line name ISMMSi001-B
Synonyms MFS44-16
Accession CVCL_QX75
Resource Identification Initiative To cite this cell line use: ISMMSi001-B (RRID:CVCL_QX75)
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.Cys1326Arg (c.3976T>C); ClinVar=VCV002137695; 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_HK20 (GM21944)
Sex of cell Female
Age at sampling 7Y
Category Induced pluripotent stem cell
Cell line databases/resources hPSCreg; ISMMSi001-B
Biological sample resources BioSamples; SAMEA104275577
Encyclopedic resources Wikidata; Q54898307
Entry history
Entry creation15-Nov-2017
Last entry update29-Jun-2023
Version number10