Name細胞名稱：NTCC? GM16154 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 B-Lymphocyte Cell Line
面肩肱型肌營養不良癥 1； FSHD1細胞株
Description描述：Clinically affected; D4Z4 fragment size was determined using Southern Blot analysis with probe p13E-11, which is localized immediately proximal to D4Z4, after double digestion of genomic DNA with EcoRI and BlnI restriction enzymes. This patient carries D4Z4 allele of 22kb on chromosome 4qA corresponding to 6 or less D4Z4 repeats, which is below the ≤10 repeat threshold for a pathogenic allele. The permissive haplotype 4qA carries polyadenylation signal (PAS) as determined using the primers and protocol described by Lemmers R.J.F. et al (Science, 2010). The 4qA, 4qB and chromosome 10q haplotype structures were determined by 4A/4A-L/4B subtelomere haplotyping, SSLP haplotyping, and 4qSTR analysis as described by Lemmers R.J.F. et al (Am J Hum Genet., 2010 and Science, 2010), Snider L. et al (PLoS Genetics, 2010), and Barat-Houari M. et al (Euro J Hum Genet., 2010) and are as follows 4A161/4*162, 10A166/10A166; characterization of this line described by T.I. Jones et al, Neuromuscular Disorders (2016), http://dx.doi.org/doi:10.1016/j.nmd.2016.12.007; several affected family members; refer to catalog Family 1947 (Family 33 in the Jones publication)._x000D_
Category分類：B-Lymphocyte
ID編號:NTCC?-GM16154
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:42 YR
Gender性別:Male
Cell Type細胞類型: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
Affected State:Yes
Product:LCL
Gene:
Mutations突變:
Ethnicity:
Family:1947
Relationship:nephew
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: 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培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

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