GM22123丙酸血症 |丙酸-辅酶A羧化酶，β亚基； PCCB B-淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM22123 PROPIONIC ACIDEMIA | PROPIONIC-COA CARBOXYLASE, BETA SUBUNIT; PCCB B-Lymphocyte Cell Line
丙酸血症 |丙酸-辅酶A羧化酶，β亚基；聚氯乙烯细胞株
Description描述：Clinically affected; affected sister is GM22124; presented at 5 months of age with acute decompensation, lethargy, metabolic acidosis, hyperammonemia, pancytopenia, high glycine and propionic acid in urine; cardiomyopathy; gut motility is normal; 1-50% eating by mouth; g-tube; infrequent vomiting; short stature; growth hormone treatment; walked at age 3 years; language significantly below age level; first talked at age 3 years; cognitive ability mildly impaired; episodes of ketoacidosis; on metabolic formula and levocarnitine; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 377 in exon 3 of the PCCB gene (c.377C>T) resulting in a stop at codon 113 [Arg113Ter (R113X)] and the second allele has a T>C transition at nucleotide 1172 in exon 11 (c.1172T>C) resulting in the substitution of serine for phenylalanine at codon 391 [Phe391ser (F391S)]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM22123
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: Filipino
Age年龄:10 YR
Gender性别:Female
Cell Type细胞类型: PROPIONIC ACIDEMIA | PROPIONIC-COA CARBOXYLASE, BETA SUBUNIT; PCCB
Affected State:Yes
Product:LCL
Gene:PCCB
Mutations突变:ARG113TER PHE391SER
Ethnicity:
Family:2780
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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