Cellosaurus logo
expasy logo

Cellosaurus SZ-Gaucher4 (CVCL_YL48)

[Text version]
Cell line name SZ-Gaucher4
Synonyms SZ-Gaucher4 PGD; Gaucher#4
Accession CVCL_YL48
Resource Identification Initiative To cite this cell line use: SZ-Gaucher4 (RRID:CVCL_YL48)
Comments From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0457.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu29Alafs*18 (c.84dupG) (c.84_85insG) (84GG); ClinVar=VCV000004311; Zygosity=Heterozygous (NIHhESC=NIHhESC-20-0457).
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Arg535His (c.1604G>A) (R496H); ClinVar=VCV000004311; Zygosity=Heterozygous (NIHhESC=NIHhESC-20-0457).
Disease Gaucher disease (NCIt: C61268)
Gaucher disease (ORDO: Orphanet_355)
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-20-0457
Encyclopedic resources Wikidata; Q98133012
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number10