NTCC® NA25439 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA25439

Name：NTCC® NA25439 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA25439
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 2 YR
Gender性别: Female
Description描述: NIEMANN-PICK DISEASE, TYPE C1; NPC1 | NPC1 GENE; NPC1
Remarks: Clinically affected; onset of symptoms at birth; birth weight: 2 lbs, 14 oz; birth length: 14.5 inches; jaundice (indirect and direct); pulmonary disease within 2 months of birth requiring tracheal tube; hepatosplenomegaly; mild febrile seizures (occurred twice); language significantly below age level; cognitive ability moderately to severely impaired; feeding issues- not eating by mouth at all; G-tube placed at 11 months of age; exome sequencing (hg19 build) revealed compound heterozygous variants in the NPC1 gene: maternally inherited nonsense variant c.2213C>A (p.Ser738*) and paternally inherited frameshift variant c.3234_3237_dupATTT (p.Pro1080IlefsX18); the genomic positions (hg 19) of these variants are 18:21123451 and 18:21116644, respectively; an additional de novo heterozygous variant with uncertain clinical significance was found in TREX1 (3-prime repair exonuclease) gene (VUS): c.353C>G; variants in TREX1 are associated with autosomal dominant and autosomal recessive Aicardi-Goutieres Syndrome 1; occupational therapy; medications used for pulmonary and GI issues; diet consists of Vivonex pediatric formula; family history: father (GM25442), mother (GM25443), brother (GM25445), and sister (GM25438) are NPC1 carriers; repository family number 3221.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: NPC1 TREX1
Disease疾病类型:
Mutations突变: PRO1080ILEfsX18 PRO118ARG SER738*
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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