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Cellosaurus CREM046i-SA138-1 (CVCL_JW64)

[Text version]
Cell line name CREM046i-SA138-1
Synonyms SA138-1; SA138
Accession CVCL_JW64
Resource Identification Initiative To cite this cell line use: CREM046i-SA138-1 (RRID:CVCL_JW64)
Comments Part of: Next Generation Genetic Association studies (Next Gen) program cell lines.
From: Boston University School of Medicine; Boston; USA.
Population: Saudi Arabian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Homozygous (WiCell=crem046i-sa138-1).
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 16Y
Category Induced pluripotent stem cell
Web pages https://stemcellbank.bu.edu/Catalog/Item/Details/640
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)

Cross-references
Cell line collections (Providers) WiCell; crem046i-sa138-1
Cell line databases/resources SKIP; SKIP003110
SKIP; SKIP003594
Encyclopedic resources Wikidata; Q54814481
Entry history
Entry creation22-Aug-2017
Last entry update30-Jan-2024
Version number14