NTCC® NA13034 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA13034

Name：NTCC® NA13034 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA13034
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: 6 DA
Gender性别: Male
Description描述: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 | GLYPICAN 3; GPC3
Remarks: Clinically affected; elevated birth weight & length; postaxial polydactyly; supernumerary nipples; macrostomia; midline groove in tongue; vertebral anomalies; intestinal malrotation; dilated ventricles diagnosed prenatally; at birth there was hypoglycemia, abdominal distension, bilious vomiting and poor feeding; donor subject has a G>T transversion at nucleotide IVS5+1 (IVS5+1G>T) of the GPC3 gene [note: currently at nucleotide IVS7+1 (GenBank Build July, 2006)] that mutates the splice donor site and causes a silent change of Arg431 (AGA>AGT) and read through to a stop codon and premature termination
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: GPC3
Disease疾病类型:
Mutations突变: IVS5+1G>T
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