ID   SiBBE
AC   CVCL_A2HP
DR   Wikidata; Q105511084
RX   PubMed=33033327;
CC   Population: Southeast Asian; Thai.
CC   Doubling time: 17 hours (PubMed=33033327).
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.His3His (c.9T>C); ClinVar=VCV000193106; Zygosity=Heterozygous (PubMed=33033327).
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu27Lys (c.79G>A) (E26K); ClinVar=VCV000015161; Zygosity=Heterozygous (PubMed=33033327).
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; c.315+16G>C; ClinVar=VCV000256345; Zygosity=Heterozygous (PubMed=33033327).
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; c.316-185C>T; ClinVar=VCV000036316; Zygosity=Homozygous (PubMed=33033327).
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P03126; Human papillomavirus type 16 protein E6.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P03129; Human papillomavirus type 16 protein E7.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Transformant: NCBI_TaxID; 333760; Human papillomavirus type 16 (HPV16).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: Mononuclear cell; CL=CL_0000842.
DI   NCIt; C34375; Beta thalassemia
DI   ORDO; Orphanet_231214; Beta-thalassemia major
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 9
//
RX   PubMed=33033327; DOI=10.1038/s41598-020-73991-4; PMCID=PMC7546635;
RA   Trakarnsanga K., Tipgomut C., Metheetrairut C., Wattanapanitch M.,
RA   Khuhapinant A., Poldee S., Kurita R., Nakamura Y., Srisawat C.,
RA   Frayne J.;
RT   "Generation of an immortalised erythroid cell line from haematopoietic
RT   stem cells of a haemoglobin E/beta-thalassemia patient.";
RL   Sci. Rep. 10:16798-16798(2020).
//