GM22581 PROPIONIC ACIDEMIA | PROPIONYL-COA CARBOXYLASE, ALPHA SUBUNIT; PCCA B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM22581 PROPIONIC ACIDEMIA | PROPIONYL-COA CARBOXYLASE, ALPHA SUBUNIT; PCCA B-Lymphocyte Cell Line
丙酸血症 |丙酰辅酶A羧化酶，α亚基； PCCA细胞株
Description描述：Clinically affected; no family history; failure to thrive; acute pancreatitis; port-a-cath in place; normal gut motility; fed by G-tube; infrequent vomiting; basal ganglia damage; acute neutropenia; acute anemia; immunodeficiency treated with IVIG; acutely low platelets; broken arm; short stature; began walking at 2 years of age; began talking at 3.5 years of age; language significantly below age level; cognitive ability moderately impaired; episodes of ketoacidosis once a week or more; chronic hyperammonemia <2 times normal; currently on metabolic formula; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 418 of the PCCA gene (c.418delC) resulting in a frameshift (H140fs) and the second allele has a 3 bp deletion at nucleotide 1593 in exon 18 (1593_1595delATT) resulting in a frameshift and stop at codon Leu532
Category分类：B-Lymphocyte
ID编号:NTCC®-GM22581
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:9 YR
Gender性别:Female
Cell Type细胞类型: PROPIONIC ACIDEMIA | PROPIONYL-COA CARBOXYLASE, ALPHA SUBUNIT; PCCA
Affected State:Yes
Product:LCL
Gene:PCCA
Mutations突变:1593_1595delATT 418delC
Ethnicity:
Family:
Relationship:proband
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