NTCC® NA27997 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA27997

Name：NTCC® NA27997 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA27997
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 38 YR
Gender性别: 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其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: THAP12
Disease疾病类型:
Mutations突变: c.829C>A (p.Pro277Thr)
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net