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Cellosaurus MUi017-A (CVCL_QX57)

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Cell line name MUi017-A
Accession CVCL_QX57
Resource Identification Initiative To cite this cell line use: MUi017-A (RRID:CVCL_QX57)
Comments From: Mahidol University; Bangkok; Thailand.
Population: Southeast Asian; Thai.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4824; HBA2; Simple; p.Ter143Glnext*32 (c.427T>C); ClinVar=VCV000015624; Zygosity=Homozygous; Note=Hb Constant Spring (PubMed=28395746).
Disease Alpha thalassemia (NCIt: C34368)
Alpha-thalassemia (ORDO: Orphanet_846)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 52Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=28395746

Markers:
AmelogeninX
CSF1PO12
D2S133819
D3S135816
D5S81811,12
D7S82010,12
D8S117910,12
D13S3179,11
D16S53911
D18S5115,16
D19S43315.2
D21S1129,32.2
FGA22,23
TH019,10
TPOX8
vWA17,18

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Publications

PubMed=28395746; DOI=10.1016/j.scr.2017.02.014
Wasinee Wongkummool, Warun Maneepitasut, Thongperm Munkongdee, Pirut Tong-Ngam, Amornrat Tangprasittipap, Saovaros Svasti, Narisorn Kitiyanant, Kittiphong Paiboonsukwong, Suthat Fucharoen, Alisa Tubsuwan;
Derivation of the human induced pluripotent stem cell line MUi017-A from a patient with homozygous hemoglobin Constant Spring.
Stem Cell Res. 20:84-87(2017)

Cross-references
Cell line databases/resources hPSCreg; MUi017-A
Encyclopedic resources Wikidata; Q54907065
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number10