KAIMRCi004-A

BTBGD-iPSC#1

General

Cell Line

hPSCreg name KAIMRCi004-A
Cite as:
KAIMRCi004-A
Alternative name(s)
BTBGD-iPSC#1
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
KAIMRCi004-B
(BTBGD-iPSC#2)
Donor's gene variants:
SLC19A3
Donor diseases:
Biotin-thiamine-responsive basal ganglia disease
Last update 17th January 2024
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Provider

Generator King Abdullah International Medical Research Center (KAIMRC)
Owner King Abdullah International Medical Research Center (KAIMRC)
Distributors
Derivation country Saudi Arabia

External Databases

BioSamples SAMEA115112560

General Information

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

Donor Information

General Donor Information

Sex female
Age of donor (at collection) 10-14
Ethnicity Saudi

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • BBGD
  • BTBGD
  • Biotin-responsive basal ganglia disease
Genetic variants
SLC19A3 (target)
2q36.3
NM_025243.4:c.1264A>G
NP_079519.1:p.Thr422Ala
Homozygous
Disease associated phenotypes
  • seizers, subacute encephalopathy, developmental delay, and sensorineural hearing loss
Family history yes
Is the medical history available upon request? yes
Is clinical information available? yes

Karyotyping (Donor)

Has the donor karyotype been analysed?
Unknown

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
Yes
Exome sequencing

Donor Relations

Other cell lines of this donor

External Databases (Donor)

BioSamples SAMEA115112565

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? KING ABDULLAH INTERNATIONAL MEDICAL RESEARCH CENTER
Approval number NRJ22J/005/01
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used? KING ABDULLAH INTERNATIONAL MEDICAL RESEARCH CENTER

hIPSC Derivation

General

Source cell line name erythroid progenitor cells (EPCs)
Derived from same source line (potentially other lot and donor, see below):
Source cell type
A unipotent hematopoietic progenitor cell derived from myeloid stem cells that is committed to the erythrocyte cell lineage.
Synonyms
  • Erythropoietic Progenitor Cells
  • Erythroid Progenitor Cells
  • Erythroid Precursor Cells
  • Erythroid Stem Cells
  • Erythroid Precursor Cell
  • Erythropoietic Progenitor Cell
  • Erythroid Stem Cell
  • Erythroid Progenitor Cell
  • Erythropoietic Stem Cells
show more synonyms
Age of donor (at collection) 10-14
Collected in 2022
Passage number reprogrammed 1

Reprogramming method

Vector type Non-integrating
Vector Episomal
Genes
Is reprogramming vector detectable?
No
Methods used
PCR
Notes on reprogramming vector detection After passage 9 episcopal vectors were undetectable

Vector free reprogramming

Other

Selection criteria for clones Based on hESC-like morphology, emerging iPSCs were and picked and expanded into feeder-free culture conditions.
Derived under xeno-free conditions
Yes
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions

Surface coating Gelatin
Feeder cells
No
Passage method Enzyme-free cell dissociation
O2 Concentration 20 %
CO2 Concentration 5 %
Medium mTeSR™ Plus
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
POU5F1 (OCT-4)
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Marker Expressed
GATA4
Yes
SOX17
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Marker Expressed
Brachyury or TBXT
Yes
CDX2
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation
Marker Expressed
NESTIN or NES
Yes
PAX6
Yes

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46, XX
Passage number: 12
Karyotyping method: G-Banding

Other Genotyping (Cell Line)