GM09546 PELIZAEUS-MERZBACHER DISEASE; PMD | PROTEOLIPID PROTEIN 1; PLP1 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM09546 PELIZAEUS-MERZBACHER DISEASE; PMD | PROTEOLIPID PROTEIN 1; PLP1 Cell Line
佩利扎乌斯-梅茨巴赫病； PMD |蛋白脂蛋白1； PLP1细胞株
Description描述：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)]. _x000D_
Category分类：Fibroblast
ID编号:NTCC®-GM09546
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:20 YR
Gender性别:Male
Cell Type细胞类型: PELIZAEUS-MERZBACHER DISEASE; PMD | PROTEOLIPID PROTEIN 1; PLP1
Affected State:Yes
Product:Fibroblast
Gene:PLP1
Mutations突变:PRO215SER
Ethnicity:ITALIAN
Family:2175
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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
Tel电话：400-800-2947
Email：Biovector@163.com
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