Cellosaurus cell line Lis06_Gaucher1 (CVCL

Cross-references
Cell line name	Lis06_Gaucher1
Synonyms	Lis06_Gaucher_1
Accession	CVCL_B928
Resource Identification Initiative	To cite this cell line use: Lis06_Gaucher1 (RRID:CVCL_B928)
Comments	From: Tel-Aviv Sourasky Medical Center; Tel-Aviv; Israel. 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.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Unspecified (PubMed=20186514; PubMed=21585244).
Disease	Gaucher disease (NCIt: C61268) Gaucher disease (ORDO: Orphanet_355)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	Blastocyst stage
Category	Embryonic stem cell
Publications	PubMed=20186514; DOI=10.1007/s11626-010-9275-5 Frumkin T., Malcov M., Telias M., Gold V., Schwartz T., Azem F., Amit A., Yaron Y., Ben-Yosef D. Human embryonic stem cells carrying mutations for severe genetic disorders. In Vitro Cell. Dev. Biol. Anim. 46:327-336(2010) PubMed=21585244; DOI=10.1089/scd.2011.0102; PMCID=PMC3272241 Ben-Yosef D., Amit A., Malcov M., Frumkin T., Ben-Yehudah A., Eldar I., Mey-Raz N., Azem F., Altarescu G., Renbaum P., Beeri R., Varshaver I., Eldar-Geva T., Epsztejn-Litman S., Levy-Lahad E., Eiges R. Female sex bias in human embryonic stem cell lines. Stem Cells Dev. 21:363-372(2012)
Encyclopedic resources	Wikidata; Q54902592
Entry history
Entry creation	06-Jun-2012
Last entry update	19-Dec-2024
Version number	21