GM22366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® GM22366 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 19 days of age by newborn screen; no family history; gut motility is normal; eats by mouth; not yet walking; on levocarnitine and metabolic formula; donor subject is a compound heterozygote: one allele has a G>A change at nucleotide 667 of the PCCA gene (667G>A) resulting in the substitution of lysine for glutamic acid at codon 233 [Glu233Lys (E233K)]; the second allele has a G>T change at nucleotide 1355 (1355G>T) resulting in a substitution of valine for glycine at codon 452 [Gly452Val (G452V)]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM22366
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:11 MO
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:GLU233LYS GLY452VAL
Ethnicity:
Family:2825
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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