NTCC® NA21902 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA21902

Name：NTCC® NA21902 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA21902
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: GROWTH HORMONE INSENSITIVITY SYNDROME | GROWTH HORMONE RECEPTOR; GHR
Remarks: Clinically affected; height 74.4 cm; random growth hormone level was 34; IGF-I level was less than 10 (normal 70-288); IGF-II level was 16 (normal 334-642); IGFBP3 level was 0.11 (normal 1.5-3.4); GHBP activity was 5.2% of normal; donor subject is presumed homozygous for a 2 bp deletion involving codon 230 in exon 7 of the GHR gene (either TA or AT) causing a frameshift and an in-frame stop codon 4 codons downstream [fs234Ter]; homozygosity could not be confirmed due to the unavailability of parental samples.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: GHR
Disease疾病类型:
Mutations突变: 2-BP DEL, FS234TER
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