GM28560

GM28560 iPSC from Fibroblast

Description:

ISOGENIC CONTROL
CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
N-GLYCANASE 1; NGLY1

Affected:

Yes

Sex:

Female

Age:

16 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Gene-Edited hiPSC
Heritable Diseases
PIGI Consented Sample

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

Ethnicity

Not Hispanic/Latino

Ethnicity

British/English

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

ISCN

46,XX[19]

Species

Homo sapiens

Common Name

Human

Remarks

Gene corrected isogenic iPSC line (NCATS-CL6104/TRNDi010-D-1) generated from parental fibro GM26612 carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9; heterozygous correction - PMID 34619643. 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. This line was gene-edited using CRISPR/Cas9 technology using a LULL agreement with The Broad Institute. Please see Phenotypic Data tab of parental fibro GM26612 for additional line information.

Characterizations

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. 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.

Phenotypic Data

Remarks

External Links

Gene Cards

NGLY1

NCBI GTR

610661 N-GLYCANASE 1; NGLY1

615273 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG

OMIM

610661 N-GLYCANASE 1; NGLY1

615273 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG

Culture Protocols

Supplement

Pricing

Commercial/For-profit:

$1,789.00USD

Academic/Non-profit/Government:

$1,110.00USD