NTCC® NA24319 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA24319

Name：NTCC® NA24319 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA24319
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: Male
Description描述: PRADER-WILLI SYNDROME; PWS
Remarks: Clinically affected; diagnosed at 16 days; symptom onset at birth; mild facial dysmorphia associated with PWS; difficulty feeding after birth; hypotonia; right hip subluxation; undescended testes, pervasive developmental delay; no speech; positive methylation study; FISH confirmed karyotype iscn: 46, XY .ish cen 15(ccp15x3)mat,15q11-13(SNRPNx2); FISH study of proband锟絪 mother (not in catalog) with chr 15 probe revealed same hybridization of three D-group chromosomes as proband, indicating presence of three centromeres on chromosome 15; surgeries: orchiopexy at age 2 years; right dega pelvic osteotomy at age 3 years; medications: growth hormone.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: SNRPN
Disease疾病类型:
Mutations突变: DEL MATERNAL EXON ALPHA
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