Name：NTCC? NA16085 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA16085
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: 26 YR
Gender性別: Female
Description描述: CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 | PALMITOYL-PROTEIN THIOESTERASE 1; PPT1
Remarks: IBR-BD Registry #1357UT7-01; cognitive difficulties began at age 7; now nursing home-bound at age 26; granular osmiophilic deposits (GROD); palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range, 1-3 pmoles/min/mg of protein); homozygous for a thr 75-to-pro missense mutation in exon 2 of the palmitoyl-protein thioesterase 1 (PPT1) gene resulting from an A to-C transversion at nucleotide 223 [THR75PRO (T75P)]
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: THR75PRO
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