Name：NTCC? NA23245 Tumor-derived cell line DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA23245
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 59 YR
Gender性別: Female
Description描述: THROMBOCYTHEMIA, ESSENTIAL | LEUKEMIA, ACUTE MYELOID; AML | JANUS KINASE 2; JAK2
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.
Alternate IDs其他編號:
Cell Type細胞類型: Tumor-derived cell line
Source組織來源: Tumor-derived cell line
Gene: JAK2
Disease疾病類型:
Mutations突變: VAL617PHE
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
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