Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of the Mitochondrial Genome
Class Ophthalmologic Disorders
Cell Type Fibroblast
Transformant Untransformed
Race Caucasian
Ethnicity JEWISH
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY.arr[hg19](1-22)x2,(XY)x1
Species Homo sapiens
Common Name Human
Remarks external ophthalmoplegia with retinal degeneration, ptosis, myocardial fibrosis with congestive heart failure, muscle weakness, diabetes, and absence of sweat; parents have normal ERGs and EKGs; see GM06224A Lymph
PDL at Freeze 4.47
Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
Remark external ophthalmoplegia with retinal degeneration, ptosis, myocardial fibrosis with congestive heart failure, muscle weakness, diabetes, and absence of sweat; parents have normal ERGs and EKGs; see GM06224A Lymph
Johnson SC, Martinez F, Bitto A, Gonzalez B, Tazaerslan C, Cohen C, Delaval L, Timsit J, Knebelmann B, Terzi F, Mahal T, Zhu Y, Morgan PG, Sedensky MM, Kaeberlein M, Legendre C, Suh Y, Canaud G, mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases Kidney international: 2018
PubMed ID: 30471880
 
Prithivirajsingh S, Story MD, Bergh SA, Geara FB, Ang KK, Ismail SM, Stevens CW, Buchholz TA, Brock WA, Accumulation of the common mitochondrial DNA deletion induced by ionizing radiation. FEBS Lett571(1-3):227-32 2004
PubMed ID: 15280047
No data is available
Passage Frozen 5
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids
Serum 15% fetal bovine serum Not inactivated