GM20087儿童脑病（Lennox-Gastaut 综合征）|重复染色体 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20087 ENCEPHALOPATHY OF CHILDHOOD (LENNOX-GASTAUT SYNDROME) | DUPLICATED CHROMOSOME B-Lymphocyte Cell Line
儿童脑病（Lennox-Gastaut 综合征）|重复染色体细胞株
Description描述：Clinically affected; birth weight 6 pounds 1/4 ounce at term; feeding problems during infancy; mental retardation; seizure disorder developed at age 7 years; stopped taking oral feeds at age 14 years when malrotation was identified; severely delayed developmental milestones: wheelchair bound, nonverbal, can not feed self, totally dependent for toileting needs; excessive drooling; normal pinna; broad, flat forehead; flat malar processes; flexion contractions of the distal interphalangeal joints on the fourth and fifth digits of the left hand and an absent flexion crease of the left distal interphalangeal joint on the fifth finger; flexor tone; two to three beats of clonus noted in lower extremities; tight heel cords bilaterally; flexion contractures of knees and elbows bilaterally; widened reflex zone at knees and hyperactive patellar reflex; exotropia; hyperpigmented macule on chest with irregular borders.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM20087
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: Black/African American
Age年龄:14 YR
Gender性别:Female
Cell Type细胞类型: ENCEPHALOPATHY OF CHILDHOOD (LENNOX-GASTAUT SYNDROME) | DUPLICATED CHROMOSOME
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:AFRICAN-AMERICAN
Family:
Relationship:proband
Karyotype:46,XX,dup(18)(q12.3q22).ish dup(18)(q12.3q22)(wcp18+).arr 4q31.21q31.22(144975019-145163047)x1,18q12.3q22.1(35775026-61034249)x3
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
NTCC典型培养物保藏中心
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