Name：NTCC? NA04368 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA04368
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: 12 YR
Gender性別: Male
Description描述: KEARNS-SAYRE SYNDROME; KSS | COMPLEX I, SUBUNIT ND4; MTND4
Remarks: Clinically affected with Kearns-Sayre syndrome; frequent episodes of dehydration between ages 2-3; poor growth started about age 2-3; small stature diagnosed at age 5; by age 11 there was pigmentary retinopathy, absent deep tendon reflexes, 2/4 weakness of the proximal muscles of the shoulders and hips, weakness of the trapezius group, and ocular muscle weakness; dry and course skin and hair; mild bilateral high frequency sensorineural hearing loss; growth hormone deficiency; hypopituitarism; ptosis; nystagmus; strabismus; occasional diplopia; no heart block; lymphoblasts from the donor subject (collected at age 12) underwent mitochondrial DNA mutation analysis: no large deletion was identified in the lymphoblastoid cell line but a mutation commonly seen in subjects with Leber錕絪 Hereditary Optic Neuropathy was identified; donor subject was found to carry a G>A transition at nucleotide 11778 in the MTND4 gene of the mitochondrial genome [11778G>A] resulting in a substitution of histidine for arginine at codon 340 [Arg340His(R340H)].
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: MTND4
Disease疾病類型:
Mutations突變: MTND4*LHON11778A
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