NTCC® NA09546 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA09546

Name：NTCC® NA09546 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA09546
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: 20 YR
Gender性别: Male
Description描述: PELIZAEUS-MERZBACHER DISEASE; PMD | PROTEOLIPID PROTEIN 1; PLP1
Remarks: Clinically affected; poor head control and nystagmus noted at 3 months of age; spastic quadriparesis evident by age 4 years; chorioathetotic movements began between age 8-10 years; optic atrophy; dysconjugate eye movements with jerky vertical and rotatory nystagmus; developed muscle spasms in late teens; at age 22 years weight = 46 pounds, length = 124 cm, and head circumference = 50.5 cm; mild exophthalmos; at age 22 years no longer evidence of nystagmus or chorioathetotic movements; affected brother died of pneumonia at age 10 years; donor subject is hemizygous for a C>T transition at nucleotide 643 in exon 5 of the PLP1 gene [643C>T] resulting in a substitution of serine for proline at codon 215 [Pro215Ser (P215S)].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: PLP1
Disease疾病类型:
Mutations突变: PRO215SER
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