Cellosaurus logo
expasy logo

Cellosaurus SZ-NF1 (CVCL_YL57)

[Text version]
Cell line name SZ-NF1
Synonyms SZ-NF1 PGD; NF#1
Accession CVCL_YL57
Resource Identification Initiative To cite this cell line use: SZ-NF1 (RRID:CVCL_YL57)
Comments From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0463.
Miscellaneous: 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:7765; NF1; Simple; c.4332+1G>C (c.4269+1G>C); ClinVar=VCV001457886; Zygosity=Unspecified; Note=Splice donor mutation (Direct_author_submission).
Disease Neurofibromatosis type 1 (NCIt: C3273)
Neurofibromatosis type 1 (ORDO: Orphanet_636)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex unspecified
Age at sampling Blastocyst stage
Category Embryonic stem cell
Cross-references
Cell line databases/resources NIHhESC; NIHhESC-20-0463
Encyclopedic resources Wikidata; Q98133021
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9