GM22030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® GM22030 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; diagnosed at age 1 week by newborn screening; failure to thrive; no family history; apnea; chronic long QT diagnosed at age 5 years; gut motility is slow; gastroesophageal reflux; 50% fed by mouth; G-tube; vomiting once a month or more; acute neutropenia; acute anemia; immune deficiency; acute low platelets; asthma; broken bones: nondisplaced proximal right fibula and distal right radius; short stature; first walked at 18 months of age; language is slightly below age level; talked at 2 years of age; age appropriate cognitive ability; episodes of ketoacidosis once a month or more; on metabolic formula and levocarnitine; hypothyroid; esophagitis; fibroblast carboxylases results: propionyl-CoA carboxylase (PCC) 21 pmol/min/mg protein (normal range is 91-500), 3-methylcrotonyl-CoA carboxylase (MCC) 136 pmol/min/mg protein (normal range is 31-220), and pyruvate carboxylase (PC) 305 pmol/min/mg protein (normal range is 71-370); donor subject is homozygous for a 2 bp deletion at nucleotide 1172 in exon 11 of the PCCB gene (c.1172_1173delTT)
Category分类：B-Lymphocyte
ID编号:NTCC®-GM22030
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:5 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:1172_1173delTT
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
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