Name：NTCC? NA20387 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA20387
Size/Quantity數(shù)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: 18 YR
Gender性別: Male
Description描述: CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2 | CLN2 GENE; CLN2
Remarks: Clinically affected; intelligence declined at age 2 years; seizures and movement dysfunction at age 2 years; EM showed curvilinear profile; donor subject is a compound heterozygote: one allele has a G>C transversion of the consensus AG 3-prime splice acceptor site immediately preceding 523T of the cDNA sequence in the CLN2 (TPP1) gene [IVS5-1G>C] and a second allele has a C>T transition at nucleotide 622 in exon 6 of the CLN2 (TPP1) gene [622C>T] resulting in a substitution of a termination signal for arginine at codon 208 [Arg208Ter (R208X)].
Alternate IDs其他編號:
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: CLN2
Disease疾病類型:
Mutations突變: ARG208TER IVS5AS, G>C, -1
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net