Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Congenital Muscle Diseases
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Asian
Family History N
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN arr 15q11.2(18655531-20089383)x3,22q11.21(17256416-17386984)x3
Species Homo sapiens
Common Name Human
Remarks Clinically affected; PCR and capillary electrophoresis (CE) results indicate that the donor subject has 0 copies of the SMN1 gene and 3 copies of the SMN 2 gene.
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Remark Clinically affected; PCR and capillary electrophoresis (CE) results indicate that the donor subject has 0 copies of the SMN1 gene and 3 copies of the SMN 2 gene.
Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO, Swoboda KJ, Funanage VL, Wang W, Mackenzie W, Scavina M, Sol-Church K, Butchbach ME, SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR Molecular genetics & genomic medicine3:248-57 2015
PubMed ID: 26247043
 
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013
PubMed ID: 23665875
No data is available
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium