NTCC® NA25161 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA25161

Name：NTCC® NA25161 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA25161
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: 7 YR
Gender性别: Female
Description描述: NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
Remarks: Clinically affected; diagnosed at age 7; symptom onset age 5-6 years; high-arched palate; scoliosis; generalized muscle weakness; respiratory insufficiency especially at night; fatigue;; muscle biopsy revealed nemaline myopathy; congenital myopathy testing via ACTA1 and NEB Gene sequencing revealed: heterozygous in exon 170 of the NEB gene for a sequence variant defined as c.24218C>A, which is predicted to result in premature protein termination (p.Ser8073*) and heterozygous in triplicated region of the NEB gene for a sequence variant defined as c.13059+5G>A; affected twin brother (not in repository) tested positive for both mutations; mother is unaffected carrier (GM25160).
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.13059+5G>A c.24218 C>A
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