Cellosaurus logo
expasy logo

Cellosaurus SZ-Marfan7 (CVCL_YL56)

[Text version]
Cell line name SZ-Marfan7
Synonyms SZ-Marfan7 PGD; Marfan#7
Accession CVCL_YL56
Resource Identification Initiative To cite this cell line use: SZ-Marfan7 (RRID:CVCL_YL56)
Comments From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0458.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Gln1813Ter (c.5437C>T); ClinVar=VCV000042383; Zygosity=Heterozygous (NIHhESC=NIHhESC-20-0458).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex unspecified
Age at sampling Blastocyst stage
Category Embryonic stem cell
Web pages https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
Cross-references
Cell line databases/resources NIHhESC; NIHhESC-20-0458
Encyclopedic resources Wikidata; Q98133019
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number10