GM22113丙酸血症 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM22113 PROPIONIC ACIDEMIA B-Lymphocyte Cell Line
丙酸血症细胞株
Description描述：Clinically affected; newborn screened and diagnosed at 1 day of age; failure to thrive; affected sister is GM22112; tachypnea; slow gut motility; g-tube; infrequent vomiting; grand mal seizures; acute anemia; immune deficiency; asthma; short stature; broken left arm/elbow; walked at 2 years of age; talked at age 18 months; cognitive ability is moderately impaired; episodes of ketoacidosis once a month or more; chronic hyperammonemia; on metabolic formula and levocarnitine; donor subject is homozygous for a 14 bp deletion and a 12 bp insertion at nucleotide 1218 in exon 12 of the PCCB gene [c.1218_1231delinsTAGAGCACAGGA (c.1218del14ins12)] resulting in a frameshift and stop codon at Gly406 (Gly406fs)
Category分类：B-Lymphocyte
ID编号:NTCC®-GM22113
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:7 YR
Gender性别:Female
Cell Type细胞类型: PROPIONIC ACIDEMIA
Affected State:Yes
Product:LCL
Gene:PCCB
Mutations突变:12-BP INS, 14-BP DEL, NT1218
Ethnicity:
Family:2776
Relationship:sister
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net