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Cellosaurus SZ-SMA6 (CVCL_YL68)

[Text version]
Cell line name SZ-SMA6
Synonyms SZ-SMA6 PGD; SMA#6
Accession CVCL_YL68
Resource Identification Initiative To cite this cell line use: SZ-SMA6 (RRID:CVCL_YL68)
Comments From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0468.
Miscellaneous: Sex of donor 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:11117; SMN1; Unexplicit; Ex7del; Zygosity=Homozygous (NIHhESC=NIHhESC-20-0468).
Disease Werdnig-Hoffmann disease (NCIt: C98670)
Proximal spinal muscular atrophy type 1 (ORDO: Orphanet_83330)
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
Publications

PubMed=26473610; DOI=10.1371/journal.pone.0138893; PMCID=PMC4608834
Epsztejn-Litman S., Cohen-Hadad Y., Aharoni S., Altarescu G., Renbaum P., Levy-Lahad E., Schonberger O., Eldar-Geva T., Zeligson S., Eiges R.
Establishment of homozygote mutant human embryonic stem cells by parthenogenesis.
PLoS ONE 10:E0138893-E0138893(2015)

Cross-references
Cell line databases/resources NIHhESC; NIHhESC-20-0468
Encyclopedic resources Wikidata; Q98133049
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number10