NTCC® HM20480 B-Lymphocyte High Molecular Weight DNA-BioVector NTCC典型培养物保藏中心Coriell HM20480

Name：NTCC® HM20480 B-Lymphocyte High Molecular Weight DNA
Category分类：High Molecular Weight DNA
Cat#货号:NTCC®-Coriell HM20480
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 35 YR
Gender性别: Male
Description描述: HEMOGLOBIN--BETA LOCUS; HBB | HEMOGLOBIN--DELTA LOCUS; HBD
Remarks: Clinically affected; hemoglobin Lepore-Baltimore/beta thalassemia; diagnosed at age 4 years; during childhood hemoglobin maintained at 8-9 without transfusions; hemoglobin levels increased to 10-13 as teenager; no pain crises until adulthood when an upper paraspinal mass was detected; hypertension; iron overload; mild pulmonary hypertension; extramedullary hematopoietic mass; extramedullary hematopoiesis of vertebrae with resulting debilitating orthopedic problems; palpable spleen; hemoglobin electrophoresis results: HbA = 0%, HbA2 = 0%, HbF = 76.8%, HbS = 0%, 2 smaller bands comigrating near A2 (11.4% and 10.8%); hemoglobin = 13.2 g/dl; MCV = 67.6; affected brother is GM20481; unaffected parents are GM20482 and GM20483; children are GM20575 and GM20576.
Alternate IDs其他编号:
Cell Type细胞类型: B-Lymphocyte
Source组织来源: B-Lymphocyte
Gene:
Disease疾病类型:
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Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
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References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net