OR00005

OR00005 iPSC from Fibroblast

Description:

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2; DEE2
CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5

Affected:

Yes

Sex:

Female

Age:

22 MO (At Sampling)

Overview

Repository

Orphan Disease Center

Subcollection

Heritable Diseases

Protocols

Protocol PDF

Cell Type

Stem Cell

Cell Subtype

Induced pluripotent stem cell

Sample Source

iPSC from Fibroblast

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

46,XX[18].arr(1-22,X)x2

Species

Homo sapiens

Common Name

Human

Remarks

Genotype: Mutant. Donor subject carries a heterozygous C>T transition at nucleotide 1648 in exon 12 of the CDKL5 gene (1648C>T) resulting in a nonsense mutation at codon 550 (Arg550X). Reference Sequence: CACAGTGACACGAGAACTTTGCTCAGCCCTTCTGGAAGAAATAAC[C/T]GAAATGAGGGAACGCTGGACTCACGTCGAACCACAACCAGA. Same subject as OR00006 (wild-type allele), OR00024 (isogenic control) and OR00025 (passage-matched control of OR00024).

Characterizations

Passage Frozen

Induced Pluripotent Stem Cell

The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen and intracellular marker 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

CDKL5

Chromosomal Location

Xp22

Allelic Variant 1

Arg550X; Developmental and epileptic encephalopathy 2

Identified Mutation

c.1648C>T

Phenotypic Data

Remarks

External Links

Gene Cards

CDKL5

Gene Ontology

GO:0004674 protein serine/threonine kinase activity

GO:0005524 ATP binding

GO:0006468 protein amino acid phosphorylation

GO:0016740 transferase activity

NCBI Gene

Gene ID:6792

NCBI GTR

300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5

OMIM

300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5

Culture Protocols

Passage Frozen

Split Ratio

1:5

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

mTeSR1

Serum

none

Substrate

Matrigel

Supplement

Pricing

Commercial:

$1,300.00USD

Academic &
Non-profit:

$800.00USD