NTCC® NA23629 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23629

Name：NTCC® NA23629 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23629
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: 51 YR
Gender性别: Female
Description描述: OCULOPHARARYNGEAL MUSCULAR DYSTROPHY; OPMD | POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1
Remarks: Clinically affected; diagnosed at age 47 years; mild bilateral ptosis; poor ability to swallow cold liquids; some weakness in legs; difficulty walking on her heels; PABP2 gene testing revealed one allele with 9 GCG repeats (expanded) and one allele with 6 GCG repeats (normal); Family history: mother, maternal aunt, two maternal cousins; maternal grandmother (and many of maternal grandmother锟絪 siblings) are also affected.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: PABPN1
Disease疾病类型:
Mutations突变: (GCG)n EXPANSION, (GCG)8-13
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