Name：NTCC? NA07078 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA07078
Size/Quantity數量: 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: 20 YR
Gender性別: Female
Description描述: NIJMEGEN BREAKAGE SYNDROME | NIJMEGEN BREAKAGE SYNDROME GENE; NBS1 | MARKER CHROMOSOME
Remarks: Clinically affected; birth weight 5 lbs 6 oz; microcephaly and poor growth noted in first 3 months of life; short stature; developmental delay; hypogammaglobulinemia diagnosed at age 6; at age 18 height was 129 cm, weight was 22.6 kg and, head circumference was 42 cm; birdlike facies with a prominent beaked nose and recessed chin; low-set ears; hypoplasia of dental enamel; tympanic membranes appeared scarred; small tonsils; no cervical lymphoid tissue palpable; bilateral rales on chest exam; severe immunodeficiency; lymphopenic with decreases in both B and T cell numbers; proliferative responses to mitogens were poor; serum IgG 120 mg/dL; IgM 20 mg/dL; IgA undetectable; high incidence of chromosome breakage; T cells show breakage at fragile sites on chromosomes 7 and 14; donor subject is homozygous for a deletion of 5 nucleotides in exon 6 of the NBS1 gene, resulting in a frameshift and a premature termination at codon 218 [657-661delACAAA (657del5)]; mother is GM08037; father is GM08036; see GM07166 fibroblast cell line.
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: NBS1
Disease疾病類型:
Mutations突變: 5-BP DEL, NT657-661
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net