AG05324科卡因综合征类型未明确 皮肤，未明确的成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® AG05324 COCKAYNE SYNDROME TYPE UNSPECIFIED Skin, Unspecified Cell Line
未明确的科凯恩综合征类型细胞株
Description描述：Clinically affected; birth weight 3780 g and head circumference 32 cm; at 4 years and eight months weight was 6.5 kg, height was 76 cm, head circumference was 41 cm; congenital cataracts; cryptorchidism; scooting around floor at 4 months of age but later milestones markedly delayed; no language at age 4 but could understand simple commands; scanty gray hair; misaligned and carious teeth; prominent ears; significant hypogonadism; thin extremities with marked muscle atrophy; thoracic kyphosis; pectus excavatum; wandering nystagmoid eye movements; short stature; spastic tone and flexion contractures in all extremities; deep tendon reflexes symmetrically brisk and equal; minimal great toe extension with plantar stimulation; poor strength; seizures developed about age 5-6; subject died at age 6; affected older sister died at age 6; mother is AG05326; father is AG05322; EEG showed a slow background rhythm, persistent low-amplitude delta activity over the right hemisphere, frequent paroxysmal runs of bilateral high-amplitude theta and delta activity, and occasional bisynchronous sharp transients; skull x-ray showed small cranium and markedly thickened cranial vault; spine x-ray showed diffuse osteoporosis, moderate kyphosis, and slight low thoracic scoliosis; brain stem auditory evoked response at age 4 was "nondiagnostic on the right but would tend to suggest normal conduction through the central auditory pathways on the left"; CT scan of brain at age 4 showed "rather marked atrophy over the convexities as well as atrophy of the brain stem and posterior fossa for age with basal ganglionic calcification" and changes considered consistent with diagnosis of Cockayne's syndrome; dose-response experiments showed a marked hypersensitivity to 254-nm UV; see AG05325 lymphoid
Category分类：Fibroblast
ID编号:NTCC®-AG05324
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:5 YR
Gender性别:Male
Cell Type细胞类型: COCKAYNE SYNDROME TYPE UNSPECIFIED
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突变:
Ethnicity:
Family:772
Relationship:proband
Karyotype:46,XY
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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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