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Cellosaurus SZ-Fanconi C (CVCL_YL31)

[Text version]
Cell line name SZ-Fanconi C
Synonyms SZ-Fanconi C PGD
Accession CVCL_YL31
Resource Identification Initiative To cite this cell line use: SZ-Fanconi C (RRID:CVCL_YL31)
Comments From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0476.
Miscellaneous: Sex of donor and sequence variation from personal communication of Eiges, Rachel.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:3584; FANCC; Simple; c.456+4A>T (IVS4+4A>T); ClinVar=VCV000012045; Zygosity=Unspecified; Note=Splice donor mutation (Direct_author_submission).
Disease Fanconi anemia, complementation group C (NCIt: C125704)
Fanconi anemia (ORDO: Orphanet_84)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
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-20-0476
Encyclopedic resources Wikidata; Q98132998
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9