Name細(xì)胞名稱：NTCC? GM24264 TRANSLOCATED CHROMOSOME B-Lymphocyte Cell Line
易位染色體細(xì)胞株
Description描述：Affected subject carries a de novo, apparently balanced rearrangement; macrocephaly- head circumference >95th percentile; weight >95th percentile; height 95th percentile; single telangiectastic lesion (3x1.5cm) across right flank; mild bilateral 2-3 syndactyly of the toes; deep tendon reflexes slightly brisk; seizures; cerebral atrophy-MRI showed diffuse atrophy especially of the frontal and parietal lobes with mild cerebellar and vermian atrophy); significant developmental delay (at 8.5 years functions at a preschool level,WISC III scores were 58, 57 and 64 for full scale, verbal, and performance IQ); weak areas include: logic, analysis, planning, sequencing and abstract thinking; bone age appropriate for chronological age; plasma amino acids, urine organic acids, liver enzymes, cholesterol, 7-dehydrocholesterol, uric acid, and molecular analysis for Fragile X syndrome were all normal; family history: mother had 2 pregnancy losses and 1 healthy son, mother had enlarged occipital frontal circumference of 58cm (+2SD) and mild bilateral 2-3 syndactyly of the toes; maternal grandmother and great aunts had a history of learning difficulties and childhood seizures.
Category分類：B-Lymphocyte
ID編號(hào):NTCC?-GM24264
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:9 YR
Gender性別:Female
Cell Type細(xì)胞類型: TRANSLOCATED CHROMOSOME
Affected State:Yes
Product:LCL
Gene:
Mutations突變:
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XX,t(1;3)(q32.1;q25.2).arr[hg19](1-22,X)x2
Tissue Type組織來源:
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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