Name：NTCC? NA16081 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA16081
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: 18 YR
Gender性別: Female
Description描述: CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 | PALMITOYL-PROTEIN THIOESTERASE 1; PPT1
Remarks: IBR-BD Registry #1418/20105; age of onset of 7.5 years; seizures; granular osmiophilic deposits (GROD); palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range, 1-3 pmoles/min/mg of protein); compound heterozygote; one allele carries an arg151-to-ter nonsense mutation resulting from a C-to-T substitution at nucleotide 451 [ARG151TER (R151X)] in exon 5 of the palmitoyl-protein thioesterase 1 (PPT1) gene; a second allele carries an asp 79-to-gly missense mutation in exon 3 resulting from an A to-G transversion at nucleotide 236 [ASP79GLY (D79G)]
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: PPT1
Disease疾病類型:
Mutations突變: ARG151TER ASP79GLY
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