GM13034 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 | GLYPICAN 3; GPC3 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM13034 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 | GLYPICAN 3; GPC3 Cell Line
辛普森-戈拉比-贝梅尔综合征，1 型； SGBS1 |磷脂酰肌醇3； GPC3细胞株
Description描述：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
Category分类：Fibroblast
ID编号:NTCC®-GM13034
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:6 DA
Gender性别:Male
Cell Type细胞类型: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 | GLYPICAN 3; GPC3
Affected State:Yes
Product:Fibroblast
Gene:GPC3
Mutations突变:IVS5+1G>T
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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
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