Name：NTCC? NA07157 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA07157
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 17 YR
Gender性別: 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其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: PLP1
Disease疾病類型:
Mutations突變: TRP162ARG
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net