Cellosaurus cell line SZ-ALS3 (CVCL

Cellosaurus SZ-ALS3 (CVCL_YL01)

Cross-references
Cell line name	SZ-ALS3
Synonyms	SZ-ALS3 PGD; ALS#3
Accession	CVCL_YL01
Resource Identification Initiative	To cite this cell line use: SZ-ALS3 (RRID:CVCL_YL01)
Comments	From: Shaare Zedek Medical Center, The Hebrew University; Jerusalem; Israel. Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-20-0484. Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358. Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations	Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=27773700).
Disease	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (NCIt: C168756) Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Sex ambiguous
Age at sampling	Blastocyst stage
Category	Embryonic stem cell
Web pages	https://www.szmc.org.il/UploadFiles/12_2016/HESC.pdf
Publications	PubMed=27773700; DOI=10.1016/j.stemcr.2016.09.011; PMCID=PMC5106522 Cohen-Hadad Y., Altarescu G., Eldar-Geva T., Levy-Lahad E., Zhang M., Rogaeva E., Gotkine M., Bartok O., Ashwal-Fluss R., Kadener S., Epsztejn-Litman S., Eiges R. Marked differences in C9orf72 methylation status and isoform expression between C9/ALS human embryonic and induced pluripotent stem cells. Stem Cell Reports 7:927-940(2016)
Cell line databases/resources	NIHhESC; NIHhESC-20-0484
Encyclopedic resources	Wikidata; Q98132957
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	8