NTCC® NA22030 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA22030

Name：NTCC® NA22030 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA22030
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 5 YR
Gender性别: Female
Description描述: PROPIONIC ACIDEMIA | PROPIONIC-COA CARBOXYLASE, BETA SUBUNIT; PCCB
Remarks: 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)
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: PCCB
Disease疾病类型:
Mutations突变: 1172_1173delTT
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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