EYS mutation

General

Cell Line

hPSCreg name MUi038-A
Cite as:
MUi038-A
Alternative name(s)
EYS mutation
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
LUMCi056-A-1
(LUMC0128iCRB01 heterozygote CRISPR corrected isogenic clone 02, iso02LUMC0128iCRB01)
Donor's gene variants:
CRB1, CRB1
Donor diseases:
Retinitis Pigmentosa
WTSIi694-A
(HPSI0816i-oemk_6)
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Retinitis pigmentosa
UNEWi004-A
(PRPF31 SH)
Donor's gene variants:
PRPF31
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UNEWi005-A
(PRPF31 RH)
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PRPF31
Donor diseases:
Retinitis pigmentosa
WTSIi463-A
(HPSI0716i-yibs_1)
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Retinitis pigmentosa
CIRMi508-A
(CW70323)
Donor diseases:
retinitis pigmentosa
WTSIi659-B
(HPSI1116i-wakr_6)
Donor diseases:
Retinitis pigmentosa
WTSIi610-A
(HPSI1116i-naum_5)
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Retinitis pigmentosa
CIRMi519-A
(CW70342)
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retinitis pigmentosa
FRIMOi001-A
(RP1_FiPS4F1.6)
Donor diseases:
Retinitis Pigmentosa
LUMCi055-A
(CRB1 patient 117 compound heterozygous 2983G>T p.(Glu995*) c.1892A>G, p.(Tyr631Cys), LUMC0117iCRB01)
Donor's gene variants:
CRB1, CRB1
Donor diseases:
Retinitis Pigmentosa
CIRMi531-A
(CW70356)
Donor diseases:
retinitis pigmentosa
LUMCi056-A
(CRB1 patient 128 compound heterozygous c.2843G>A p.(Cys948Tyr) and c.3122T>C p.(Met1041Thr), LUMC0128iCRB01)
Donor's gene variants:
CRB1, CRB1
Donor diseases:
Retinitis Pigmentosa
CABi002-A
(OF0176-EYS02-C7, EYS02-MiPS4F7)
Donor diseases:
Retinitis Pigmentosa
CIRMi542-A
(CW70373)
Donor diseases:
retinitis pigmentosa
WTSIi659-A
(HPSI1116i-wakr_3)
Donor diseases:
Retinitis pigmentosa
NUIGi027-A
(RP001C8)
Donor diseases:
Retinitis Pigmentosa
NUIGi028-A
(RP002C12)
Donor diseases:
Retinitis Pigmentosa
NUIGi029-A
(RP003C12)
Donor diseases:
Retinitis Pigmentosa
WTSIi463-B
(HPSI0716i-yibs_3)
Donor diseases:
Retinitis pigmentosa
WTSIi691-A
(HPSI1116i-eiyy_1)
Donor diseases:
Retinitis pigmentosa
WTSIi693-A
(HPSI1116i-zies_2)
Donor diseases:
Retinitis pigmentosa
UNEWi001-A
(UNEW001Ai)
Donor's gene variants:
PRPF31
Donor diseases:
Retinitis pigmentosa
UNEWi002-A
(UNEW002Ai, PRPF31 AW)
Donor's gene variants:
PRPF31, PRPF31
Donor diseases:
Retinitis pigmentosa
UNEWi003-A
(PRPF31-HD)
Donor diseases:
Retinitis pigmentosa
WTSIi698-A
(HPSI1116i-aimh_5)
Donor diseases:
Retinitis pigmentosa
WTSIi713-A
(HPSI0816i-xoga_7)
Donor diseases:
Retinitis pigmentosa
RIi009-A
(RP2.H.iPSC.3)
Donor diseases:
Retinitis pigmentosa
WTSIi693-B
(HPSI1116i-zies_6)
Donor diseases:
Retinitis pigmentosa
WTSIi698-B
(HPSI1116i-aimh_3)
Donor diseases:
Retinitis pigmentosa
WTSIi688-B
(HPSI1116i-wiau_4)
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Retinitis pigmentosa
WTSIi613-B
(HPSI1116i-rafd_1)
Donor diseases:
Retinitis pigmentosa
WTSIi613-A
(HPSI1116i-rafd_4)
Donor diseases:
Retinitis pigmentosa
ESi077-A
(CABi001-A, PRPF31-MiPS4F3)
Donor's gene variants:
PRPF31, PRPF31
Donor diseases:
Retinitis Pigmentosa
CIRMi525-A
(CW70348)
Donor diseases:
retinitis pigmentosa
FRIMOi002-A
(RP2_FiPS4F2.2)
Donor diseases:
Retinitis Pigmentosa
FRIMOi005-A
(RP3_FiPS4F11)
Donor diseases:
Retinitis Pigmentosa
UNEWi027-A
(F116)
Donor's gene variants:
PRPF31
Donor diseases:
Retinitis pigmentosa
WTSIi713-B
(HPSI0816i-xoga_12)
Donor diseases:
Retinitis pigmentosa
WTSIi688-A
(HPSI1116i-wiau_1)
Donor diseases:
Retinitis pigmentosa
RIi012-A
(RP.1.H.iPSC.2)
Donor diseases:
Retinitis pigmentosa
Last update 16th March 2024
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Provider

Generator Mahidol University (MU)

External Databases

BioSamples SAMEA115419503

General Information

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

Donor Information

General Donor Information

Sex male

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Stage
Patient had a history of photophobia and reduced night vision in both eyes since the age of 28.
Synonyms
  • retinitis pigmentosa
  • pericentral pigmentary retinopathy
  • Rod-cone dystrophy

External Databases (Donor)

BioSamples SAMEA115419502

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
Please indicate whether the data associated with the donated material has been pseudonymised or anonymised. anonymised
Does consent explicitly allow the derivation of pluripotent stem cells? Yes
Does consent prevent CELLS DERIVED FROM THE DONATED BIOSAMPLE from being made available to researchers anywhere in the world? No
How may genetic information associated with the cell line be accessed? Controlled Access
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? Mahidol University Central Institutional Review Board (MU-CIRB)
Approval number MU-CIRB 2019/316.0912
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?

hIPSC Derivation

General

Source cell line name hematopoietic stem cells
Derived from same source line (potentially other lot and donor, see below):
Source cell type
Primitive blood cells derived from embryonic mesenchyme capable of differentiating into any of the blood cell line progenitor cells (erythroblasts, young granulocytic series cells, megakaryocytes, etc.)
Synonyms
  • Hematopoietic Progenitor Cell
  • Ferrata cell
  • Hemohistioblast
  • Hematohistioblast
  • Hematopoietic Stem Cell
  • HSC
  • HSCs
  • HPC
  • Hematopoietic Progenitor Cells
  • Hematopoietic Stem Cells
show more synonyms

Reprogramming method

Vector type Non-integrating
Vector Episomal
Is reprogramming vector detectable?
No
Methods used
PCR

Vector free reprogramming

Other

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

Culture Conditions

Medium Essential 8™

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
POU5F1 (OCT-4)
Yes
NANOG
Yes
SSEA-4
Yes
TRA 1-60
Yes
TDGF1
Yes
SOX2
Yes
DNMT3B
Yes
GABRB3
Yes
GDF3
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Marker Expressed
Sox17
Yes
FOXA2
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Marker Expressed
TBXT
Yes
TBX6
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation
Marker Expressed
NEUROD1
Yes
MAP2
Yes

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
Normal male karyotype (46, XY)

Other Genotyping (Cell Line)