HEFX1

General

Cell Line

hPSCreg name HUJIe001-A
Cite as:
HUJIe001-A (RRID:CVCL_9837)
Alternative name(s)
HEFX1
Cell line type Human embryonic stem cell (hESC)
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Donor diseases:
Fragile X syndrome
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(STR-I-347-FRAXA)
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Donor's gene variants:
FMR1
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Fragile X syndrome
INSRMe002-A
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HADe005-A
(HAD 5)
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VUBe011-A
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Last update 4th September 2022
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Provider

Generator Hebrew University of Jerusalem (HUJI)
Derivation country Israel

External Databases

Cellosaurus CVCL_9837
Wikidata Q54882274

General Information

Publications
* Is the cell line readily obtainable for third parties?
No

Donor Information

General Donor Information

Sex male

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is affected.
Synonyms
  • FXS
  • FraX syndrome
  • Martin-Bell syndrome
  • FRAXA syndrome
show more synonyms
Disease associated phenotypes
  • Fragile-X Syndrome, carrier (> 500 repeats)

Ethics

Was the embryo established purely for research purposes? No
Have both parents consented to the use of the embryo for ESC derivation? Yes
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
Alternatives to consent are available? Yes
Alternatives to consent
Alternative consent approval number
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 expressly prevent the derivation of pluripotent stem cells? No
How may genetic information associated with the cell line be accessed?
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?
Approval number

hESC Derivation

Embryo stage Blastula with ICM and Trophoblast
PGD Embryo?
Yes
ZP removal technique Mechanical
Cell isolation Immunosurgery
Cell seeding Isolated ICM

Culture Conditions

Feeder cells mouse embryonic fibroblast cell
Cellfinder Ont Id: EFO_0004040

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
POU5F1 (OCT-4)
Yes
SOX2
Yes
NANOG
Yes
ZFP42 (REX-1)
Yes
Alkaline Phosphatase
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vivo teratoma
In vitro spontaneous differentiation
Mesoderm
Ont Id: UBERON_0000926
In vivo teratoma
In vitro spontaneous differentiation
Ectoderm
Ont Id: UBERON_0000924
In vivo teratoma
In vitro spontaneous differentiation

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46XY

Other Genotyping (Cell Line)