OR00004

OR00004 iPSC from Fibroblast

Description:

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

Affected:

Yes

Sex:

Male

Age:

35 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

ISCN

46,XY[19].arr(1-22)x2,(X,Y)x1

Species

Homo sapiens

Common Name

Human

Remarks

Genotype: Mutant; Flanking Sequence: TGTATGTGACCCGTGACAAAGTGAGAGCCAAGGGCTTGGATGGAAGCT[T/A]GAGATAGGGCAAGGGATGGCAGCTAGAGCCAACAGCCTGCAACTCTTGT; Same subject as OR00003 (Wildtype)

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

Lys629X; Developmental and epileptic encephalopathy 2

Identified Mutation

c.1886T>A

Phenotypic Data

Remarks

Genotype: Mutant; Flanking Sequence: TGTATGTGACCCGTGACAAAGTGAGAGCCAAGGGCTTGGATGGAAGCT[T/A]GAGATAGGGCAAGGGATGGCAGCTAGAGCCAACAGCCTGCAACTCTTGT; Same subject as OR00003 (Wildtype)