Name：NTCC? NA20383 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA20383
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: 30 YR
Gender性別: Female
Description描述: CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3 | CLN3 GENE; CLN3
Remarks: Clinically affected; vision loss at age 5 years; seizures at age 11 years; movement and intelligence declined at age 12 years; EM showed fingerprint profile; donor subject is a compound heterozygote: one allele has a 1.02 kb deletion including 217 bp of the open reading frame (nucleotides 598-814), corresponding to 2 exons resulting in a frameshift that generates a termination codon 84 bp downstream of the deletion junction [1-KB DEL, NT598] and a second allele has a G>A transition at nucleotide 1020 in exon 11 of the CLN3 gene [1020G>A] resulting in a substitution of lysine for glutamic acid at codon 295 [Glu295Lys (E295K)].
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: CLN3
Disease疾病類型:
Mutations突變: 1-KB DEL, NT598 GLU295LYS
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(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net