NTCC® NA04594 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA04594

Name：NTCC® NA04594 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA04594
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: 36 YR
Gender性别: Female
Description描述: CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1 | GAP JUNCTION PROTEIN, BETA-1, 32-KD; GJB1
Remarks: Clinically affected; hypertrophic variety of CMT disease; diagnosis confirmed by nerve conductivity tests; donor subject has one allele with a G>A transition of the GJB1 (Cx32) gene resulting in a substitution of methionine for valine at codon 139 [Val139Met (V139M)]; affected brother is GM04598; affected mother is GM04597; affected daughter is GM04595; affected great aunt is GM04596; unaffected spouse is GM04593.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: GJB1
Disease疾病类型:
Mutations突变: VAL139MET
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