GM23245
Tumor-derived cell line from Peripheral Vein
Description:
THROMBOCYTHEMIA, ESSENTIAL
LEUKEMIA, ACUTE MYELOID; AML
JANUS KINASE 2; JAK2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Peripheral vein
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Cell Type
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Tumor-derived cell line
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Transformant
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Epstein-Barr Virus
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Sample Source
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Tumor-derived cell line from Peripheral Vein
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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45,XX,-7,add(9)(p24),del(11)(p15p13),del(20)(q12q13.2)[7]/46,XX,-7,+8,add(9)(p24),del(11)(p15p13),del(20)(q12q13.2)[15].arr[hg19] (7)x1,(8)x2~3,9p24.3p13.3(46,586-34,167,733) hmz,9p23(9,219,774-9,924,906)x3,9p23(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
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| 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. |
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| 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. |
| 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 homozygous 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 |
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| 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 |
| Passage Frozen |
6 |
| 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 |
| Supplement |
- |
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