SKIP002985 - SKIP Search

SKIP002985 : EURACi002-A

Cell Line
Donor
Clinical Observation
Quality Control
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Cell Line Name	EURACi002-A
Original Database URL
Database
Cell Line Name(2)	L1CAV3
Species	Human
Type	iPS Cell
Original Tissue	Peripheral Blood Peripheral blood mononuclear cell (PBMC)
Disease Status	Diseased
Description	iPS cell derived from a patient with isolated Hyper-CKEmia. The patient is heterozygous for the T78K missense mutation on the CAV3 gene.
Cell Morphology	human ES-like
Grade	Research Grade

Method for Establishment

Vector	Plasmid
Transgene	OCT3/4, SOX2, KLF4, and L-MYC
Feeder Cell	No
Medium	TeSR-E8 medium (Stem Cell Technologies)
Genome Editing	No

Detection of Contaminants

Mycoplasma	Negative	Method	PCR

Pluripotency Tests

Pluripotent Markers	Yes	Assay	Immunofluorescence, flow cytometry
in vitro Differentiation	Yes	Assay	embryoid body formation, differentiation
in vivo Differentiation	No	Assay

Chromosomal QC

Karyotype	Yes	Assay	G-banding

Cell Identity

STR	Yes	Type	**********

No data available

Disease Name	Isolated Hyper-CKEmia	ICD10
Disease Name	Isolated Hyper-CKEmia	OMIM ID
Age	22
Sex	Female
Race	Caucasian
Genetic Analysis	Yes

No data available

Journal

1	Stem Cell Res. 2017;27:25-29.

Contact Information

#	Name	Organization	Contact Email
1	Alessandra Rossini	Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lubeck

Information Provider

#	Name	Organization	Contact Email
1	Alessandra Rossini	Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lubeck

Provider/Distributor

#	Availability	Organization	Email	URL
1	Available	Institute for Biomedicine, Eurac Research, Bolzano, Italy, Affiliated Institute of the University of Lubeck