Name：NTCC? NA24268 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA24268
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 21 YR
Gender性別: Male
Description描述: MYOPATHY, CENTRONUCLEAR, 1; CNM1 | DYNAMIN 2; DNM2
Remarks: Clinically affected; able to run with both feet leaving the ground; walks without assistance greater than 10 steps; using genomic DNA, PCR was used to amplify exon 8 of the DNM2 gene; bi-directional sequence analysis was performed to evaluate for the mutation in the DNM2 gene; a heterozygous G>A nucleotide change was identified; this missense mutation leads to the replacement of the normal glutamic acid codon (GAG) with a lysine codon (AAG) at position 368 of the resultant protein GLU368LYS (E368K); unaffected father is GM23795(Lymph); unaffected mother is GM23794(Lymph); unaffected brother is GM23793(Lymph).
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: Dynamin 2
Disease疾病類型:
Mutations突變: GLU368LYS
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net