NTCC® NA23929 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23929

Name：NTCC® NA23929 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23929
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: 5 YR
Gender性别: Female
Description描述: NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
Remarks: Clinically affected; exome sequencing of exons 112 and 176 revealed subject has two mutations in the NEB gene: c.17654G>A (p.Trp5885*), a known causative mutation resulting in a premature protein termination; and c.24771delT (p.Phe8257Leufs*10), a mutation predicted to result in a frame-shift and premature protein termination; family history: maternal first cousin once removed is also affected (not in repository).
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: NEB
Disease疾病类型:
Mutations突变: c.17654G>A c.24771delT
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