GM28955

GM28955 iPSC from Fibroblast

Description:

TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2

Affected:

Yes

Sex:

Female

Age:

16 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Hereditary Cancers

Protocols

Protocol PDF

Biopsy Source

Skin

Cell Type

Stem cell

Cell Subtype

Induced pluripotent stem cell

Transformant

Reprogrammed (Sendai)

Sample Source

iPSC from Fibroblast

Race

White

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

46,XX,inv(9)(p11q13)[19]

Species

Homo sapiens

Common Name

Human

Remarks

Reprogrammed from parental line GM03958 (fibroblast); 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. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune.

Characterizations

Induced Pluripotent Stem Cell

The parental cell line was recovered reprogrammed to an induced pluripotent stem cell line and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis.

Gene

TSC2

Chromosomal Location

16p13.3

Allelic Variant 1

H522T; TUBEROUS SCLEROSIS, TYPE 2

Identified Mutation

HIS522THR