Name：NTCC? NA20400 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA20400
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: 36 YR
Gender性別: Male
Description描述: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A | POLYMERASE, DNA, GAMMA; POLG
Remarks: Clinically unaffected; donor subject is heterozygous for a G>A transition at nucleotide 1399 in exon 7 of the POLG gene (c.1399G>A) resulting in the substitution of threonine for alanine at codon 467 [Ala467Thr (A467T)]; son died at one year of age with clinical picture of Alpers syndrome with mitochondrial depletion and COX deficiency; spouse is GM20399; proband not in Repository.
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: POLG
Disease疾病類型:
Mutations突變: ALA467THR
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