NTCC® NA21751 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA21751

Name：NTCC® NA21751 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21751
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: 46 YR
Gender性别: Male
Description描述: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD | VALOSIN-CONTAINING PROTEIN; VCP
Remarks: Clinically affected; myopathy with onset at 45 years of age; Paget and muscle disease with onset at age 32; signs of depression and substance abuse; dementia with onset at age 47; serum creatine phosphokinase is 324 U/L; serum bone-specific alkaline phosphatase is 397 U/L; radiographs showed thickening of the iliopectineal line with enlargement of the right iliac bone and picture framing and enlargement of the L1 vertebral body; donor subject is heterozygous for a G>A transition at nucleotide 464 in exon 5 of the VCP gene (464G>A) resulting in the substitution of histidine for arginine at codon 155 [Arg155His(R155H)]; see GM21752 Fibroblast
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: VCP
Disease疾病类型:
Mutations突变: ARG155HIS
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