GM22208丙酸血症 |丙酰辅酶A羧化酶，α亚基； PCCA B-淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM22208 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; diagnosed at 3 days of age by newborn screening; failure to thrive; no family history; mitral valve regurgitation; normal gut motility; reflux; no eating by mouth; GJ-tube; vomiting once a month or more; acute neutropenia; chronic anemia; acute low platelets; walked at 16 months of age; talked at age 1 year; mildly impaired cognitive ability; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: allele 1: has a substitution of arginine for lysine at codon 298 in exon 11 of the PCCA gene [Lys298Arg (K298R)] and allele 2: has a deletion of exons 13-20
Category分类：B-Lymphocyte
ID编号:NTCC®-GM22208
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:2 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:DEL EX13-20 LYS298ARG
Ethnicity:
Family:2744
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
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