GM04368 KEARNS-SAYRE SYNDROME; KSS | COMPLEX I, SUBUNIT ND4; MTND4 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM04368 KEARNS-SAYRE SYNDROME; KSS | COMPLEX I, SUBUNIT ND4; MTND4 B-Lymphocyte Cell Line
卡恩斯-塞尔综合症； KSS |复合物 I，亚基 ND4； MTND4细胞株
Description描述：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锟絪 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)].
Category分类：B-Lymphocyte
ID编号:NTCC®-GM04368
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:12 YR
Gender性别:Male
Cell Type细胞类型: KEARNS-SAYRE SYNDROME; KSS | COMPLEX I, SUBUNIT ND4; MTND4
Affected State:Yes
Product:LCL
Gene:MTND4
Mutations突变:MTND4*LHON11778A
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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
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