GM07166奈梅亨骨折综合症 |奈梅亨断裂综合症基因； NBS1 成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM07166 NIJMEGEN BREAKAGE SYNDROME | NIJMEGEN BREAKAGE SYNDROME GENE; NBS1 Cell Line
奈梅亨断裂综合症 |奈梅亨断裂综合症基因；国家统计局1细胞株
Description描述：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 GM07078 lymphocyte cell line.
Category分类：Fibroblast
ID编号:NTCC®-GM07166
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:20 YR
Gender性别:Female
Cell Type细胞类型: NIJMEGEN BREAKAGE SYNDROME | NIJMEGEN BREAKAGE SYNDROME GENE; NBS1
Affected State:Yes
Product:Fibroblast
Gene:NBS1
Mutations突变:5-BP DEL, NT657-661
Ethnicity:
Family:2100
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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
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