GM24411 DUPLICATED CHROMOSOME | CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24411 DUPLICATED CHROMOSOME | CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME B-Lymphocyte Cell Line
重复染色体|染色体 15Q11-Q13 重复综合征细胞株
Description描述：Clinically affected; Symptom onset and diagnosis at age 2 years; mother锟絪 pregnancy was complicated, with the mother spotting in the first 10 weeks; testing that revealed both parents were carriers for cystic fibrosis; pregnancy was delivered to term by normal spontaneous vaginal delivery; hyperextensible small joints; bilateral clinodactyly; partial, subtle two and three syndactyly; feet are flat with a moderate degree of pronation; developmental milestones: sat at six months, never crawled, but began walking independently at 14 months, significantly delayed in language, did not say words until age 3 years, began putting together short phrases at age 5 years; gross motor delay; Autism; learning disability; attention issues; anxiety; hyperactivity and ADHD symptoms; obsessive/compulsive behavior; Vineland Adaptive Behavior composite of 68 at age 8 years and 9 months; nonverbal IQ is 47, verbal is 56, full scale is 49, overall knowledge is 66, and working memory is 51 at age 8 years and 9 months; asymptomatic carrier of 2 CF variant alleles; examination of the Fragile X loci by Southern blot hybridization revealed one unmethylated FMR1 allele within the normal size range (29 CGG repeats); negative EEG; comparative genomic hybridization (CGH) array showed abnormal partial trisomy 15q11.2->15q12 (5E9',14l12)X3, the duplication was confirmed by FISH; therapy includes: speech and language, occupational, physical and ABA daily; parents are GM24412 (mother) and GM24413 (father).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM24411
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:9 YR
Gender性别:Male
Cell Type细胞类型: DUPLICATED CHROMOSOME | CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:ITALIAN/ENGLISH/EUROPEAN
Family:3129
Relationship:proband
Karyotype:46,XY.arr[hg19] 15q11.2q13.1(23482348-28539976)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