GM10283 HYPERGLYCEROLEMIA | CHROMOSOME DELETION B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM10283 HYPERGLYCEROLEMIA | CHROMOSOME DELETION B-Lymphocyte Cell Line
高甘油血症 |染色体缺失细胞株
Description描述：Clinically affected; onset of symptoms at birth; maternal hypothyroidism and goiter in early pregnancy; lethargic infant who fed poorly and did not have social smile until 5 months of age; slow psychomotor development (crawled at 12 months, walked unassisted at 20 months, spoke a few words at 3 years of age); at 21 months of age, generalized osteoporosis was noted, as well as several silent fractures of both femurs and left tibia, and compression fractures of several low thoracic vertebral bodies; at 30 months of age a formal developmental and pediatric evaluation revealed: weight and head circumference less than 3rd percentile, height declined from 35th percentile to 3rd percentile, non-paralytic esotropia, hypertonia with brisk reflexes, developmental level between 8 and 13 months of age; evaluation at 42 months of age: small but proportionate child with pinched face, flexed, tapering fingers, thin semi-translucent skin, generalized, moderately severe spasticity (more pronounced in lower extremities) developmentally functioning at the 12-16 month level; biochemical test results: hyperglycerolemia (24-72 mg/dl); glyceroluria (378-2628 mg/dl); elevated serum creatine phosphokinase levels (238-6006 IU/L, with majority falling between 1500-3500 IU/L); glycerol kinase activity is less than 5 percent of control values (PMID:6249182); genetic test results: donor subject has a deletion of exons 72-79 in the dystrophin gene as determined by multiplex PCR (PMID 21354051); PCR and Southern Blot analysis confirm deletion with telomeric breakpoint between DXS28(C7) and DXS68(YHX39) and a centromeric breakpoint within region covered by DMD cDNA 11hc(63-1,1.05kb); family history includes: affected brother with similar symptoms (deceased at 33 months of age, sample not in repository) and maternal uncle (diagnosed with cerebral palsy, small stature, developmentally retarded, and died following a 锟絝lu-like锟?illness at age 5, sample not in repository).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM10283
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:15 YR
Gender性别:Male
Cell Type细胞类型: HYPERGLYCEROLEMIA | CHROMOSOME DELETION
Affected State:Yes
Product:LCL
Gene:DMD
Mutations突变:EX72-79DEL
Ethnicity:
Family:3197
Relationship:proband
Karyotype:46,X,dup(Y)(q11.223q12).arr[hg19]Xp21.2(30834539-31190951)x0,Xp21.2(30411468-30805117)x0,Xp21.2(29923798-30405375)x0,Yq11.22q11.23(25510875-28670303)x2
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