NTCC® NA13326 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA13326

Name：NTCC® NA13326 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13326
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: 17 YR
Gender性别: Female
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM | TRANSLOCATED CHROMOSOME
Remarks: AT16LA; onset of ataxia at age 14-18 months; diagnosed at age 2.5; telangiectasias severe over bulbar conjunctiva; ocular apraxia; 46,XX,inv(14)(q12;q32) with telomeric fusions in PBL; affected sibling (not in repository); culture shows increased radiosensitivity; new NGS data revealed that the donor subject is a compound heterozygote with mutations in the ATM gene (GRCh37, hg 19): c.1179_1180del (p.Trp393*) and c.4396C>T (p.Arg1466*); heterozygous mutations present in the PALB2 gene, NM_024675.3: c.3508C>T (p.His1170Tyr), and the PMS2 gene, NM_000535.5: c.88C>A (p.Gln30Lys).
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: ATM
Disease疾病类型:
Mutations突变: c.1179_1180del (p.Trp393*) c.4396C>T (p.Arg1466*)
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