Cellosaurus cell line CREM043i-SA210-1 (CVCL

Cellosaurus CREM043i-SA210-1 (CVCL_A4VF)

Cross-references
Cell line name	CREM043i-SA210-1
Synonyms	SA210-1; SA210
Accession	CVCL_A4VF
Resource Identification Initiative	To cite this cell line use: CREM043i-SA210-1 (RRID:CVCL_A4VF)
Comments	Part of: Next Generation Genetic Association studies (Next Gen) program cell lines. From: Boston University School of Medicine; Boston; USA. Population: Arab; Saudi Arabian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Homozygous (PubMed=28111279).
Disease	Sickle cell disease (NCIt: C34383) Sickle cell anemia (ORDO: Orphanet_232)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	24Y
Category	Induced pluripotent stem cell
Web pages	https://stemcellbank.bu.edu/Catalog/Item/Details/637
Publications	PubMed=28111279; DOI=10.1016/j.stemcr.2016.12.017; PMCID=PMC5390092 Park S., Gianotti-Sommer A., Molina-Estevez F.J., Vanuytsel K., Skvir N.J., Leung A., Rozelle S.S., Shaikho E.M., Weir I., Jiang Z.-H., Luo H.-Y., Chui D.H.K., Figueiredo M.S., Alsultan A., Al-Ali A., Sebastiani P., Steinberg M.H., Mostoslavsky G., Murphy G.J. A comprehensive, ethnically diverse library of sickle cell disease-specific induced pluripotent stem cells. Stem Cell Reports 8:1076-1085(2017)
Cell line databases/resources	SKIP; SKIP005459
Encyclopedic resources	Wikidata; Q107114718
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6