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Cellosaurus MUi002-A (CVCL_QX55)

[Text version]
Cell line name MUi002-A
Synonyms MU002.A-hiPS
Accession CVCL_QX55
Resource Identification Initiative To cite this cell line use: MUi002-A (RRID:CVCL_QX55)
Comments From: Mahidol University; Bangkok; Thailand.
Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
Cell type: Mesenchymal stem cell of bone marrow; CL=CL_0002540.
Sequence variations
  • Mutation; HGNC; 4827; HBB; Simple; p.Glu27Lys (c.79G>A) (E26K); ClinVar=VCV000015161; Zygosity=Heterozygous; Note=Hb E (PubMed=28213976).
  • Mutation; HGNC; 4827; HBB; Simple; c.316-197C>T (IVS2-654C>T); ClinVar=VCV000015458; Zygosity=Heterozygous (PubMed=28213976).
Disease Beta thalassemia (NCIt: C34375)
Beta-thalassemia major (ORDO: Orphanet_231214)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=28213976; DOI=10.1002/sctm.16-0121
Phanthong P., Borwornpinyo S., Kitiyanant N., Jearawiriyapaisarn N., Nuntakarn L., Saetan J., Nualkaew T., Sa-ngiamsuntorn K., Anurathapan U., Dinnyes A., Kitiyanant Y., Hongeng S.
Enhancement of beta-globin gene expression in thalassemic IVS2-654 induced pluripotent stem cell-derived erythroid cells by modified U7 snRNA.
Stem Cells Transl. Med. 6:1059-1069(2017)

Cross-references
Cell line databases/resources hPSCreg; MUi002-A
Encyclopedic resources Wikidata; Q54907060
Entry history
Entry creation15-Nov-2017
Last entry update29-Jun-2023
Version number10