CRYAB-A527G-11C1

General

Cell Line

hPSCreg name UMCUi001-A
Cite as:
UMCUi001-A (RRID:CVCL_D6JS)
Alternative name(s)
CRYAB-A527G-11C1
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
UMCUi002-A
(CRYAB-A527G-12C6)
Donor's gene variants:
CRYAB
Donor diseases:
dilated cardiomyopathy 1II
UMCUi003-A
(CRYAB-A527G-91C10)
Donor's gene variants:
CRYAB
Donor diseases:
dilated cardiomyopathy 1II
UMCUi004-A
(CRYAB-A527G-92C25)
Last update 10th January 2024
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Provider

Generator University Medical Center Utrecht - dept. Heart & Lungs (UMCU)
Owner University Medical Center Utrecht - dept. Heart & Lungs (UMCU)
Distributors
Derivation country Netherlands

External Databases

BioSamples SAMEA114292120
Cellosaurus CVCL_D6JS
Wikidata Q127384584

General Information

Publications
Projects
* Is the cell line readily obtainable for third parties?
Yes
Research use: allowed
Clinical use: allowed
Commercial use: not allowed

Donor Information

General Donor Information

Sex female
Ethnicity Caucasian

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Syndromal disease concerning posterior pole cataract and dilated cardiomyopathy
The donor is a carrier of a disease-associated mutation and affected.
Stage
End stage heart failure + congenital posterior pole cataract
Synonyms
  • CMD1II
  • CRYAB familial isolated dilated cardiomyopathy
  • cardiomyopathy, dilated, type 1II
  • dilated cardiomyopathy type 1II
  • familial isolated dilated cardiomyopathy caused by mutation in CRYAB
  • cardiomyopathy, dilated, 1II
show more synonyms
Genetic variants
CRYAB (target)
Cytoband location: 11q23.1
NM_001289808.2:c.527G>A
NP_001276737.1:p.*176Trp*19
Heterozygous
Manuscript in preparation
Disease associated phenotypes
  • Dilated cardiomyopathy
  • Congenital posterior pole cataract
Is the medical history available upon request? Yes
Is clinical information available? Yes

Karyotyping (Donor)

Has the donor karyotype been analysed?
No

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
No

Donor Relations

All cell lines of this donor's relatives
Has son:
Has son:
Has daughter:

External Databases (Donor)

BioSamples SAMEA114292121

Ethics

Has informed consent been obtained from the donor of the embryo/tissue from which the pluripotent stem cells have been derived? Yes
Was the consent voluntarily given? Yes
Has the donor been informed that participation will not directly influence their personal treatment? Yes
Can you provide us with a copy of the Donor Information Sheet provided to the donor? Yes
Do you (Depositor/Provider) hold the original Donor Consent Form? Yes
Alternatives to consent are available? No
Is there other documentation provided to the donor for consenting purposes? Yes
Confirm that consent was obtained by a qualified professional Yes
Has the donor agreed to be re-contacted? Yes
Has the donor been informed about how her/his data will be protected? Yes
Please indicate whether the data associated with the donated material has been pseudonymised or anonymised. pseudonymised
Does consent explicitly allow the derivation of pluripotent stem cells? Yes
Does consent expressly prevent the derivation of pluripotent stem cells? No
Does consent pertain to a specific research project? Yes
Details on restriction to research project Heart failure research related to UCC-UNRAVEL study (https://www.unravelrdp.nl/)
Does consent permit unforeseen future research, without further consent? Yes
Does the consent permit uses of donated embryo/tissue or derived cell line intended for clinical treatment or human applications? No
Does consent expressly prevent development of commercial products? No
Does consent expressly prevent financial gain from any use of the donated embryo/tissue, including any product made from it? Yes
Does consent expressly permit storage of donated embryo/tissue for an unlimited time? Yes
Does consent expressly permit storage of cells derived from the donated embryo/tissue for an unlimited time? Yes
Does consent prevent CELLS DERIVED FROM THE DONATED BIOSAMPLE from being made available to researchers anywhere in the world? No

Does consent permit research by

an academic institution? Yes
a public organisation? Yes
a non-profit company? Yes
a for-profit corporation? No
How may genetic information associated with the cell line be accessed? No information
Will the donor expect to receive financial benefit, beyond reasonable expenses, in return for donating the biosample? No
Has a favourable opinion been obtained from a research ethics committee, or other ethics review panel, in relation to the Research Protocol including the consent provisions? Yes
Name of accrediting authority involved? TCBio
Approval number 12-387
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?

hIPSC Derivation

General

Source cell type
A peripheral blood cell with a single nucleus. This category includes lymphocytes and monocytes.
Synonyms
  • PERIPHERAL BLOOD MONONUCLEAR CELL
  • Peripheral Blood Mononuclear Cell
  • PBMC

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Genes
Is reprogramming vector detectable?
Unknown

Vector free reprogramming

Other

Derived under xeno-free conditions
Unknown
Derived under GMP?
Unknown
Available as clinical grade?
Unknown

Culture Conditions

Surface coating Matrigel/Geltrex
Feeder cells
No
Passage method Enzyme-free cell dissociation
EDTA
Medium Essential 8™
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
Yes
Has Rock inhibitor (Y27632) been used at cryo previously with this cell line?
Yes
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?
Yes

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
OCT 3/4
Yes
SOX2
Yes
SSEA-4
Yes
TRA 1-60
Yes
NANOG
Yes
cMYC
Yes
KLF4
Yes
ZFP42 (REX-1)
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Marker Expressed
SOX17
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Marker Expressed
TBXT
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation
Marker Expressed
OTX2
Yes
Morphology

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes

Other Genotyping (Cell Line)