GM24366 DUPLICATED CHROMOSOME B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24366 DUPLICATED CHROMOSOME B-Lymphocyte Cell Line
重复染色体细胞株
Description描述：Clinically affected; symptom onset at birth; diagnosed at age 2 weeks; pregnancy history includes: oligohydramnios and breech presentation/delivery; hospitalized with respiratory syncytial virus pneumonia and respiratory failure at 6 weeks of age, episode of metabolic alkalosis with hypophosphatemia during this hospitalization that spontaneously resolved; hypotonia (improved with PT/OT); microcephaly (32 cm, < 3rd percentile at birth, <10th percentile at 3 months, 3-4 SD below the mean at age 17); short stature; small for age (<5th percentile for weight and height at 3 months, 3-4 SD below the mean at age 17); high palate; small mouth; crowded teeth; thin lips; prominent nasal bridge; mild intermittent esotrophia; prominent eyes with bilateral epicanthal folds; palpebral fissures 2 cm bilaterally; borderline low set ears; superior helixes are squared and somewhat overturned; very slight pectus excavatum; hypoplastic toenails; 36 degree scoliosis; congenital hip subluxation; mild hip dysplasia; fine motor delay and gross motor delay (improved with PT/OT); severe mental retardation; does not communicate well orally; uses only a few words that are not understood by strangers; large receptive vocabulary, communicates by showing; not potty trained; sleep disturbance; medications include Reglan and Proventil; treatments include physical and occupational therapies; unaffected parents are GM24365(Lymph) and GM24367(Lymph).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM24366
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:18 YR
Gender性别:Female
Cell Type细胞类型: DUPLICATED CHROMOSOME
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:SCOTTISH/IRISH
Family:3124
Relationship:proband
Karyotype:46,XX,dup(5)(q13.3q21).arr[hg19] 5q13.3q21.1(76776368-99524109)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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net