NTCC® NA07157 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA07157

Name：NTCC® NA07157 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA07157
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: 17 YR
Gender性别: Male
Description描述: PELIZAEUS-MERZBACHER DISEASE; PMD
Remarks: Epilepsy; visual. handicap. since age 6 mos, obviously blind; striking optic atrophy; no retin. pigmentos., no cherry red spot; limited speech; atrophy of the extremities; total areflexia; scoliosis; pt. has gastrostomy; pos. family history; donor subject has a T>C transition at nucleotide 608 (608T>C) in exon 4 of the PLP1 gene resulting in a substitution of arginine for tryptophan at codon 163 [Trp163Arg (W163R)]; this mutation has also been described as Trp162Arg (see Koeppen et al, Ann Neurol 21:159-170, 1987)
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: PLP1
Disease疾病类型:
Mutations突变: TRP162ARG
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