The cell line is not validated yet.

General

Cell Line

hPSCreg name BIHi044-A
Cite as:
BIHi044-A
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines No similar lines found.
Last update 14th February 2025
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Provider

Generator Berlin Institute of Health (BIH)

General Information

* 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.
Mutation in SLC16A2 at c.575A>G, cDNA.741A>G, g.741A>G, p.H192R
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Monocarboxylate transporter 8 deficiency
  • X-linked intellectual disability-hypotonia syndrome
  • MCT8 deficiency
  • AHDS
show more synonyms
Genetic variants
SLC16A2 (target)
Xq13.2
NM_006517.3:c.(575A>G)
NM_006517.3(NP_006508.1):p.H192R
hemizygous

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? No
Please provide contact information of the holder of the original Donor Information Sheet. peter.kühnen@charite.de
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. pseudonymised
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? Ethikkommission der Charité – Universitätsmedizin Berlin
Approval number EA2/013/16
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
Source cell origin
An organ that constitutes the external surface of the body. It consists of the epidermis, dermis, and skin appendages.
Synonyms
  • Skin
  • Human Skin
  • SKIN
  • Integument
  • Skin, total
  • Skin, NOS
  • Skin structure (body structure)
  • entire skin
  • skin of body
  • skin organ
show more synonyms

Reprogramming method

Vector type Non-integrating
Vector A non-integrating, self-replicating RNA reprogramming vector
Genes
Is reprogramming vector detectable?
No
Methods used
PCR

Vector free reprogramming

Other

Derived under xeno-free conditions
No
Derived under GMP?
No
Available as clinical grade?
No

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?
No
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
NANOG
Yes
TRA 1-60
Yes
POU5F1 (OCT-4)
Yes
SSEA-4
Yes
Pluripotency Score Novelty Score
23.99 1.54
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Ectoderm
Ont Id: UBERON_0000924

Microbiology / Virus Screening

HIV 1 Negative
HIV 2 Negative
Hepatitis B Negative
Hepatitis C Negative
Mycoplasma Negative

Certificate of Analysis

Is there a certificate of analysis available?
Yes
Passage:

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46, XY
Karyotyping method: G-Banding

Other Genotyping (Cell Line)