Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Biopsy Source Peripheral vein
Cell Type Tumor-derived cell line
Tissue Type Blood
Transformant Epstein-Barr Virus
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
ISCN 45,XX,-7,add(9)(?::p24->qter),del(11)(pter->p15::p13->qter),del(20)(pter->q12::q13.2->qter)[7]/46,XX,-7,+8,add(9)(?::p24->qter),del(11)(pter->p15::p13->qter),del(20)(pter->q12::q13.2->qter)[15].arr[hg19] (7)x1,(8)x2~3,9p24.3p13.3(46,586-34,167,733) hmz,9p23(9,219,774-9,924,906,12,214,156-13,398,218)x3,11p15.1p13(21,104,608-34,964,082)x1,20q12q13.2(38,985,245-50,953,411)x1
Species Homo sapiens
Common Name Human
Remarks Line UKE-1; at age 30 years subject developed carcinoma of the cervix and was treated surgically; 17 years later at age 47 she was diagnosed with essential thrombocythemia controlled with hydroxyurea without bleeding or thrombotic episodes; at age 59 she had pain and swelling of the right shoulder; exam revealed 5cm right supraclavicular mass and enlarged cervical and axillary lymph nodes; histologic exam was consistent with an epitheloid angiosarcoma of UICC grade 2; six cycles of ifosfamide and adriblastin were administerd; six months later patient presented with multiple skin infiltrations and bilateral pleural effusions; bone marrow biopsy showed infiltration with 54% blast cells; essential thrombocythemia appeared to have transformed into acute myelogenous leukemia; chemotherapy with cytosine arabinoside and mitoxanthrone did not result in regression and the patient died; this culture was derived from primary leukemic cells obtained from the patient's peripheral blood; this line appears to combine hematopoietic and endothelial features indicating the close ontogenic relation of both lineages; this donor was heterozygous for a G>T transversion in the JAK2 gene resulting in the substitution of phenylalanine for valine at codon 617 [Val617Phe (V617F)]; the cell line is homozygous for the JAK2 mutation.
Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene JAK2
Chromosomal Location 9p24
Allelic Variant 1 147796.0001; THROMBOCYTHEMIA, ESSENTIAL
Identified Mutation VAL617PHE; In 71 (97%) of 73 patients with polycythemia vera (PV; 263300), 29 (57%) of 51 with essential thrombocythemia (187950), and 8 (50%) of 16 with idiopathic myelofibrosis (254450), Baxter et al. (2005) identified a somatic G-to-T transversion in the JAK2 gene, resulting in a val617-to-phe (V617F) substitution in the negative regulatory JH2 domain. The mutation was predicted to dysregulate kinase activity. It was heterozygous in most patients, homozygous in a subset as the result of mitotic recombination, and arose in a multipotent progenitor capable of giving rise to erythroid and myeloid cells.
 
Gene JAK2
Chromosomal Location 9p24
Allelic Variant 2 147796.0001; THROMBOCYTHEMIA, ESSENTIAL
Identified Mutation VAL617PHE; In 71 (97%) of 73 patients with polycythemia vera (PV; 263300), 29 (57%) of 51 with essential thrombocythemia (187950), and 8 (50%) of 16 with idiopathic myelofibrosis (254450), Baxter et al. (2005) identified a somatic G-to-T transversion in the JAK2 gene, resulting in a val617-to-phe (V617F) substitution in the negative regulatory JH2 domain. The mutation was predicted to dysregulate kinase activity. It was heterozygous in most patients, homozygous in a subset as the result of mitotic recombination, and arose in a multipotent progenitor capable of giving rise to erythroid and myeloid cells.
Remark Line UKE-1; at age 30 years subject developed carcinoma of the cervix and was treated surgically; 17 years later at age 47 she was diagnosed with essential thrombocythemia controlled with hydroxyurea without bleeding or thrombotic episodes; at age 59 she had pain and swelling of the right shoulder; exam revealed 5cm right supraclavicular mass and enlarged cervical and axillary lymph nodes; histologic exam was consistent with an epitheloid angiosarcoma of UICC grade 2; six cycles of ifosfamide and adriblastin were administerd; six months later patient presented with multiple skin infiltrations and bilateral pleural effusions; bone marrow biopsy showed infiltration with 54% blast cells; essential thrombocythemia appeared to have transformed into acute myelogenous leukemia; chemotherapy with cytosine arabinoside and mitoxanthrone did not result in regression and the patient died; this culture was derived from primary leukemic cells obtained from the patient's peripheral blood; this line appears to combine hematopoietic and endothelial features indicating the close ontogenic relation of both lineages; this donor was heterozygous for a G>T transversion in the JAK2 gene resulting in the substitution of phenylalanine for valine at codon 617 [Val617Phe (V617F)]; the cell line is homozygous for the JAK2 mutation.
Quentmeier, H., MacLeod, R.A.F, Zaborski, M., and Drexler, H.G., JAK2 V617F tyrosine mutation in cell lines derived from myeloproliferative disorders Leukemia20:471-476 2006
PubMed ID: 16408098
 
Fiedler W, Henke RP, Ergün S, Schumacher U, Gehling UM, Vohwinkel G, Kilic N, Hossfeld DK. , Derivation of a new hematopoietic cell line with endothelial features from a patient with transformed myeloproliferative syndrome: a case report. Cancer88(2):344-51 2000
PubMed ID: 10640966
No data is available
Passage Frozen 2
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 20% fetal bovine serum Not inactivated