NTCC® NA28011 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA28011

Name：NTCC® NA28011 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA28011
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: 40 YR
Gender性别: Female
Description描述: LEIGH SYNDROME; LS | SURFEIT 1; SURF1
Remarks: Unaffected carrier; whole exome sequencing and variant segregation analysis revealed that donor is heterozygous for mutation in the SURF1 gene: c.312_321del10insAT (p.L105X); reads were aligned to human genome build GRCH37/UCSC hg19; affected daughter with compound heterozygous mutations c.312_321del10insAT (p.L105X) and c.574_575insCTGC (p.R192PfsX8) in SURF1 gene is GM28012.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: SURF1
Disease疾病类型:
Mutations突变: c.312_321del10insAT (p.Leu105*)
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