Home  |  Contact

Cellosaurus NCCSi009-A (CVCL_YM51)

[Text version]
Cell line name NCCSi009-A
Synonyms BT1/18
Accession CVCL_YM51
Resource Identification Initiative To cite this cell line use: NCCSi009-A (RRID:CVCL_YM51)
Comments From: National Centre for Cell Science; Pune; India.
Population: Indian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4827; HBB; Simple; p.Ser10Valfs*14 (c.27dupG) (c.27_28insG) (cd8/9+G); ClinVar=VCV000036308; Zygosity=Homozygous (PubMed=32278313).
Disease Beta thalassemia (NCIt: C34375)
Beta-thalassemia major (ORDO: Orphanet_231214)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=32278313; DOI=10.1016/j.scr.2020.101772
Tembe S., Fernandes S., Khan N., Melinkeri S., Kale V., Limaye L.S.
Establishment of human iPSC line from patient of Indian ethnicity carrying homozygous CD8/9 (+G) beta thalassemia mutation.
Stem Cell Res. 44:101772-101772(2020)

Cross-references
Cell line databases/resources hPSCreg; NCCSi009-A
SKIP; SKIP005728
Encyclopedic resources Wikidata; Q95992690
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number6