GM28559

GM28559 iPSC from Fibroblast

Description:

ALAGILLE SYNDROME 1; ALGS1
JAGGED 1; JAG1

Affected:

Yes

Sex:

Female

Age:

17 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 (Sendai)

Sample Source

iPSC from Fibroblast

Race

White

Country of Origin

USA

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

46,XX[20]

Species

Homo sapiens

Common Name

Human

Remarks

Cell line ID: NCATS-CL7739/TRNDi031-A from parental fibro GM11091 - PMID 34198154; Hepatoductular hypoplasia documented by laparotomy & liver biopsy; pulmonic stenosis; butterfly vertebrae; classic facies; malformation of iris (embryotoxon); polyarthritis. 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

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. 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

JAG1

Chromosomal Location

20p12.2

Allelic Variant 1

; ALAGILLE SYNDROME; AGS

Identified Mutation

C312X

Phenotypic Data

Remarks

Publications

Brooks BM, Pradhan M, Cheng YS, Gorshkov K, Farkhondeh A, Chen CZ, Beers J, Liu C, Baumgaertel K, Rodems S, Zheng W, Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p C312X (c 936 T > A) mutation in JAGGED-1 Stem cell research54:102447 2021

PubMed ID: 34198154