NTCC® NA17819 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA17819

Name：NTCC® NA17819 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA17819
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: 32 YR
Gender性别: Male
Description描述: ADRENOLEUKODYSTROPHY; ALD | ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1
Remarks: Clinically affected; skin biopsy taken from the forearm; presented with adrenal insufficiency at age 24; slow decline in motor function with spastic weakness in the lower limbs associated with loss of vibration sense; MRI of the brain at age 30 was normal; began using a cane at age 28 and was wheel chair bound by age 30; clinical course characteristic of adrenomyeloneuropathy; mother and maternal grandmother are carriers (not in repository); Southern blot analysis indicated that the donor subject has a deletion of exons 8-10 in the ATP-binding cassette, subfamily D, member 1 (ABCD1) gene.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: ABCD1
Disease疾病类型:
Mutations突变: deletion of exons 8-10
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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