Cellosaurus cell line HAD5 (CVCL

Cross-references
Cell line name	HAD5
Synonyms	HAD 5; HADe005-A
Accession	CVCL_C076
Resource Identification Initiative	To cite this cell line use: HAD5 (RRID:CVCL_C076)
Comments	From: Hadassah Hebrew University Medical Center; Jerusalem; Israel. 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[300]; ClinVar=VCV000009972; Zygosity=Unspecified (PubMed=27690107).
Disease	Fragile X syndrome (NCIt: C84717) Fragile X syndrome (ORDO: Orphanet_908)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	Blastocyst stage
Category	Embryonic stem cell
Publications	PubMed=17989069; DOI=10.1093/humrep/dem351 Tikva Tako Turetsky, Einat Aizenman, Yaniv Gil, Naomi Weinberg, Yoel Shufaro, Ariel Revel, Neri Laufer, Alex Simon, Dvorah Abeliovich, Benjamin E. Reubinoff; Laser-assisted derivation of human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis. Hum. Reprod. 23:46-53(2008) PubMed=27690107; DOI=10.3390/genes7100077; PMCID=PMC5083916 Hagar Mor-Shaked, Rachel Eiges; Modeling fragile X syndrome using human pluripotent stem cells. Genes (Basel) 7:77.1-77.19(2016)
Cell line databases/resources	hPSCreg; HADe005-A SKIP; SKIP001857
Biological sample resources	BioSamples; SAMEA6621223
Encyclopedic resources	Wikidata; Q54872334
Entry history
Entry creation	06-Jun-2012
Last entry update	19-Dec-2024
Version number	17