Description:
TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Country of Origin
|
USA
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
1 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Gene |
TSC2 |
Chromosomal Location |
16p13.3 |
Allelic Variant 1 |
R1743Q; TUBEROUS SCLEROSIS, TYPE 2 |
Identified Mutation |
ARG1743GLN |
Remark |
Clinically affected; diagnosed at age 2; mental retardation with IQ of 66; adenoma sebaceum over the nose and cheeks in a butterfly distribution; seizures that began about 6 months of age; numerous, variable sized areas of depigmentation over the legs, arms and back; shagreen patch in midline of upper back; forehead plaque; abnormal EEG at age 7, which showed right frontotemporal and left occipital focal abnormalities; donor subject is heterozygous for a G>A transition at nucleotide 5228 in exon 40 of the TSC2 gene resulting in a substitution of glutamine for arginine at codon 1743 [Arg1743Gln (R1743Q)]; same donor as GM06101 lymphocyte; see GM25318 for iPSC derived from this fibroblast. |
Pal R, Xiong Y, Sardiello M, Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent and -independent signaling pathways Proceedings of the National Academy of Sciences of the United States of America116:2977-2986 2019 |
PubMed ID: 30728291 |
|
Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H, Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States Genetics in medicine : official journal of the American College of Medical Genetics9:88-100 2007 |
PubMed ID: 17304050 |
Passage Frozen |
1 |
Split Ratio |
1:5 |
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 |
20% fetal bovine serum Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
|
|