Name：NTCC? NA27997 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA27997
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: 38 YR
Gender性別: Male
Description描述: ENCEPHALOPATHY OF CHILDHOOD (LENNOX-GASTAUT SYNDROME) | THAP DOMAIN CONTAINING 12
Remarks: Whole genome sequencing revealed a heterozygous mutation in THAP12 resulting in a frameshift variant c.829C>A (p.Pro277Thr); reads were aligned to human genome build 38 (hg38); 11:76352321 G>T (hg38); 11:76063365 G>T (hg19). LCL is GM27996; affected daughter #1 is GM27991 (LCL) and GM27993 (fibro); affected daughter #2 is GM27988 (LCL) and GM27990 (fibro).
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: THAP12
Disease疾病類型:
Mutations突變: c.829C>A (p.Pro277Thr)
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