GM24683

GM24683 iPSC from Fibroblast

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Male

Age:

13 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Protocols

Protocol PDF

Biopsy Source

Skin

Cell Type

Stem cell

Cell Subtype

Induced pluripotent stem cell

Transformant

Reprogrammed (Episomal)

Sample Source

iPSC from Fibroblast

Race

White

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Confirmation

Biochemical characterization - other

ISCN

46,XY[25]

Species

Homo sapiens

Common Name

Human

Remarks

Induced pluripotent stem cell derived from parental fibroblast GM01014; subject clinically affected; elevated sweat chloride; donor subject is homozygous for the deltaF508 deletion mutation (Phe508DEL); affected brother is GM01013; father is GM01708; isogenic control line for this iPSC is GM27102. 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 iPS Academia Japan, Inc..

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 expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and PluriTest. 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

CFTR

Chromosomal Location

7q31.2

Allelic Variant 1

602421.0001; CYSTIC FIBROSIS

Identified Mutation

PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508).

Gene

CFTR

Chromosomal Location

7q31.2