Name：NTCC? NA25439 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA25439
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 2 YR
Gender性別: 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其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: NPC1 TREX1
Disease疾病類型:
Mutations突變: PRO1080ILEfsX18 PRO118ARG SER738*
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
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