Cellosaurus cell line Lis01_HEFX (CVCL

Cellosaurus Lis01_HEFX (CVCL_B923)

Cross-references
Cell line name	Lis01_HEFX
Accession	CVCL_B923
Resource Identification Initiative	To cite this cell line use: Lis01_HEFX (RRID:CVCL_B923)
Comments	From: Tel-Aviv Sourasky Medical Center; Tel-Aviv; Israel. Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-15-0329. Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358. Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations	Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[180]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=21585244).
Disease	Fragile X syndrome (NCIt: C84717) Fragile X syndrome (ORDO: Orphanet_908)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
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) PubMed=27690107; DOI=10.3390/genes7100077; PMCID=PMC5083916 Mor-Shaked H., Eiges R. Modeling fragile X syndrome using human pluripotent stem cells. Genes (Basel) 7:77.1-77.19(2016)
Cell line databases/resources	NIHhESC; NIHhESC-15-0329
Encyclopedic resources	Wikidata; Q54902587
Entry history
Entry creation	06-Jun-2012
Last entry update	19-Dec-2024
Version number	21