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Cellosaurus MUSIi008-A (CVCL_UL50)

[Text version]
Cell line name MUSIi008-A
Synonyms KLF1_2-iPSC
Accession CVCL_UL50
Resource Identification Initiative To cite this cell line use: MUSIi008-A (RRID:CVCL_UL50)
Comments From: Faculty of Medicine Siriraj Hospital, Mahidol University; Bangkok; Thailand.
Population: Southeast Asian; Thai.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6345; KLF1; Simple; p.Gly176Argfs*3 (c.519_525dupCGGCGCC) (c.525_526insCGGCGCC); ClinVar=VCV000100799; Zygosity=Heterozygous (PubMed=30605837).
  • Mutation; HGNC; 6345; KLF1; Simple; p.Ala298Pro (c.892G>C); ClinVar=VCV000056891; Zygosity=Heterozygous (PubMed=30605837).
Disease Congenital dyserythropoietic anemia type IV (NCIt: C157148)
Congenital dyserythropoietic anemia type IV (ORDO: Orphanet_293825)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=30605837; DOI=10.1016/j.scr.2018.09.021
Potirat P., Wattanapanitch M., Viprakasit V., Kheolamai P., Issaragrisil S.
An integration-free iPSC line (MUSIi008-A) derived from a patient with severe hemolytic anemia carrying compound heterozygote mutations in KLF1 gene for disease modeling.
Stem Cell Res. 34:101344-101344(2019)

Cross-references
Cell line databases/resources hPSCreg; MUSIi008-A
Encyclopedic resources Wikidata; Q95991527
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number9