Cellosaurus cell line MUi002-A (CVCL

Cross-references
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; HGNC:4827; HBB; Simple; p.Glu27Lys (c.79G>A) (E26K); ClinVar=VCV000015161; Zygosity=Heterozygous; Note=Hb E (PubMed=28213976). Mutation; HGNC; 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; PMCID=PMC5442829 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)
Cell line databases/resources	hPSCreg; MUi002-A
Encyclopedic resources	Wikidata; Q54907060
Entry history
Entry creation	15-Nov-2017
Last entry update	19-Dec-2024
Version number	11