Home  |  Contact

Cellosaurus ISMMSi002-B (CVCL_QX46)

[Text version]
Cell line name ISMMSi002-B
Synonyms MFS60-3-1; 60#3-1
Accession CVCL_QX46
Resource Identification Initiative To cite this cell line use: ISMMSi002-B (RRID:CVCL_QX46)
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 (PubMed=28925368).
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
Publications

PubMed=28925368; DOI=10.1016/j.scr.2017.06.016
Klein S., Dvornik J.L., Yarrabothula A.R., Schaniel C.
A Marfan syndrome human induced pluripotent stem cell line with a heterozygous FBN1 c.4082G>A mutation, ISMMSi002-B, for disease modeling.
Stem Cell Res. 23:73-76(2017)

Cross-references
Cell line databases/resources hPSCreg; ISMMSi002-B
Biological sample resources BioSamples; SAMEA104276575
Encyclopedic resources Wikidata; Q54898317
Entry history
Entry creation15-Nov-2017
Last entry update29-Jun-2023
Version number10