Description:
TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Cell Type
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Fibroblast
|
Transformant
|
Untransformed
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Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XX,inv(9)(p11q13)[24].arr(1-22,X)x2
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Species
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Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
4.64 |
Passage Frozen |
4 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Gene |
TSC2 |
Chromosomal Location |
16p13.3 |
Allelic Variant 1 |
H522T; TUBEROUS SCLEROSIS, TYPE 2 |
Identified Mutation |
HIS522THR |
Remark |
Clinically affected; adenoma sebaceum; ungual fibromas; shagreen patches; seizures; mental retardation; intracerebral calcifications; donor subject has a deletion at nucleotide 1564 in exon 14 of the TSC2 gene [1564delC] resulting in a substitution of threonine for histidine at codon 522 [His522Thr (H522T)] and protein truncation at codon 534; polymorphisms in TSC1 include 965T>C and 1335A>G; polymorphisms in TSC2 include 3889G>A; same donor as GM03933 lymphocyte. |
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 |
|
G Nadadhur A, Alsaqati M, Gasparotto L, Cornelissen-Steijger P, van Hugte E, Dooves S, Harwood AJ, Heine VM, Neuron-Glia Interactions Increase Neuronal Phenotypes in Tuberous Sclerosis Complex Patient iPSC-Derived Models Stem Cell Reports116:2977-2986 2018 |
PubMed ID: 30581017 |
|
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 |
4 |
Split Ratio |
1:3 |
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 |
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