GM28558

GM28558 iPSC from Fibroblast

Description:

ALAGILLE SYNDROME 1; ALGS1
JAGGED 1; JAG1

Affected:

Yes

Sex:

Female

Age:

3 MO (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

Sample Source

iPSC from Fibroblast

Race

White

Country of Origin

USA

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

46,XX[20]

Species

Homo sapiens

Common Name

Human

Remarks

Cell line ID: NCATS-CL4870/TRNDi029-A (HT822A) from parental fibro GM05759 - PMID 34087995. 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

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

JAG1

Chromosomal Location

20p12.2

Allelic Variant 1

; ALAGILLE SYNDROME 1; ALGS1

Identified Mutation

c.1395G>T (p.Arg465Arg); Splice site mutation

Phenotypic Data

Remarks

Publications

Zhu W, Cheng YS, Xu M, Farkhondeh A, Beers J, Zou J, Liu C, Baumgaertel K, Rodems S, Zheng W, Generation of Alagille syndrome derived induced pluripotent stem cell line carrying heterozygous mutation in the JAGGED-1 gene at splicing site (Chr20: 10,629,709C>A) before exon 11 Stem cell research53:102366 2021

PubMed ID: 34087995