Coriell Institute
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Steroid Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race Caucasian
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; skin biopsy taken from the forearm; presented with adrenal insufficiency at age 24; slow decline in motor function with spastic weakness in the lower limbs associated with loss of vibration sense; MRI of the brain at age 30 was normal; began using a cane at age 28 and was wheel chair bound by age 30; clinical course characteristic of adrenomyeloneuropathy; mother and maternal grandmother are carriers (not in repository); Southern blot analysis indicated that the donor subject has a deletion of exons 8-10 in the ATP-binding cassette, subfamily D, member 1 (ABCD1) gene.
PDL at Freeze 1.5
Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene ABCD1
Chromosomal Location Xq28
Allelic Variant 1 ; ADRENOMYELONEUROPATHY
Identified Mutation deletion of exons 8-10
Remark Clinically affected; skin biopsy taken from the forearm; presented with adrenal insufficiency at age 24; slow decline in motor function with spastic weakness in the lower limbs associated with loss of vibration sense; MRI of the brain at age 30 was normal; began using a cane at age 28 and was wheel chair bound by age 30; clinical course characteristic of adrenomyeloneuropathy; mother and maternal grandmother are carriers (not in repository); Southern blot analysis indicated that the donor subject has a deletion of exons 8-10 in the ATP-binding cassette, subfamily D, member 1 (ABCD1) gene.
Lee DK, Long NP, Jung J, Kim TJ, Na E, Kang YP, Kwon SW, Jang J, Integrative lipidomic and transcriptomic analysis of X-linked adrenoleukodystrophy reveals distinct lipidome signatures between adrenomyeloneuropathy and childhood cerebral adrenoleukodystrophy Biochemical and biophysical research communications: 2018
PubMed ID: 30509496
 
Gondcaille C, Genin EC, Lopez TE, Dias AM, Geillon F, Andreoletti P, Cherkaoui-Malki M, Nury T, Lizard G, Weinhofer I, Berger J, Kase ET, Trompier D, Savary S., LXR antagonists induce ABCD2 expression. Biochim Biophys Acta.pii:S1388-1981 2013
PubMed ID: 24239766
No data is available
Cumulative PDL at Freeze 6.79
Passage Frozen 2
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM
Serum 15% fetal bovine serum Not inactivated

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