Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Hispanic Ethnicity Hispanic/Latino
Ethnicity Mexican/Guatemalan
Family Member 3
Family History N
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically unaffected father of an affected child (GM23686); NGS, and MLPA analysis revealed that donor subject has 1 copy of the SMN1 gene and 2 copies of the SMN2 gene; unaffected mother of affected child is GM23687.
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Remark Clinically unaffected father of an affected child (GM23686); NGS, and MLPA analysis revealed that donor subject has 1 copy of the SMN1 gene and 2 copies of the SMN2 gene; unaffected mother of affected child is GM23687.
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
No data is available
Split Ratio 1:4
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