Name細(xì)胞名稱：NTCC? GM15818 NIJMEGEN BREAKAGE SYNDROME | NIJMEGEN BREAKAGE SYNDROME GENE; NBS1 B-Lymphocyte Cell Line
奈梅亨斷裂綜合癥 |奈梅亨斷裂綜合癥基因；國家統(tǒng)計(jì)局1細(xì)胞株
Description描述：Clinically affected; birth weight 3,050 grams; birth length 47 cm; head circumference at birth 30 cm; microcephaly; characteristic craniofacial appearance including receding forehead, prominent midface, receding mandible, upslanting palpebral fissures, and large ears with dysplastic helices; mild mental retardation; vitiligo; subtle conjunctival telangiectasia; no severe infections; increased chromosome breaks with 24% of cells with structural abnormality; IgG2 and IgG4 deficiency; homozygous for the deletion of 5 bp at nucleotide 657 in exon 6 of the NBS1 gene resulting in a premature termination at codon 218 [657-661delACAAA (657del5)]; affected brother is GM15819; mother is GM15815; father is GM15816; unaffected sister is GM15817.
Category分類：B-Lymphocyte
ID編號(hào):NTCC?-GM15818
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT/Dry Ice
Storage儲(chǔ)存方式: RT/Liquid Nitrogen
Race: White
Age年齡:6 YR
Gender性別:Female
Cell Type細(xì)胞類型: NIJMEGEN BREAKAGE SYNDROME | NIJMEGEN BREAKAGE SYNDROME GENE; NBS1
Affected State:Yes
Product:LCL
Gene:NBS1
Mutations突變:5-BP DEL, NT657-661
Ethnicity:POLISH
Family:1838
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養(yǎng)基: BioVector? Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
References參考文獻(xiàn):

Supplier供應(yīng)商:BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
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