iPS_LGH_AHDC1_P2

General

Cell Line

hPSCreg Name
USPi002-A
Alternative name(s)
iPS_LGH_AHDC1_P2
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 24th October 2022
Notes AHDC1(NM_001371928.1):c.1653del(p.Lys552ArgfsTer33) Xia-GIbbs syndrome model
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Provider

Generator Universidade de São Paulo (USP)
Owner Laboratory of Human Genetics - Institute of Biosciences (CEGH)
Distributors
Derivation country Brazil

External Databases

BioSamples SAMEA111502785
CLO CLO_0104151

General Information

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

To discuss research collaborations, send an email to Dr. Ana Krespischi (ana.krepischi@ib.usp.br)

Donor Information

General Donor Information

Sex male

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Xia-Gibbs Syndrome
Xia-Gibbs syndrome (XGS – OMIM #615829) is an autosomal dominant rare syndromic form of intellectual disability. Neonatal hypotonia, motor development delay, speech delay (severely limited/absent speech), structural brain anomalies (such as corpus callosum and myelination changes), and nonspecific facial dysmorphisms are frequently reported characteristics of the XGS patients. Other features may include sleep apnea, movement disorders (ataxia, tremors, and bradykinesias), growth hormone deficiency (with consequent short stature), behavioral concerns and autism.
The donor is a carrier of a disease-associated mutation and affected.
Genetic variants
AHDC1 (target)
NM_001371928.1:c.1653del
p.Lys552ArgfsTer33
Heterozygous

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes
46,XY
Karyotyping method: Array CGH

Other Genotyping (Donor)

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

External Databases (Donor)

BioSamples SAMEA111502786

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? No
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? No
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 Research project of the Laboratory of Human Genetics (USP). Project theme: ethilogial bases of intellectual disability; involves genomic and functional investigation
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 the DONATED BIOSAMPLE from being made available to researchers anywhere in the world? No
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? Yes
Does consent expressly permit collection of genetic information? Yes
Does consent expressly permit storage of genetic information? Yes
Does consent prevent dissemination of genetic information? No
Has the donor been informed that their donated biosample or derived cells may be tested for the presence of microbiological agents / pathogens? No
Has the donor consented to receive information discovered during use of donated embryo/tissue that has significant health implications for the donor? Yes
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
Does the consent anticipate that the donor will be notified of results or outcomes of any research involving the donated samples or derived cells? Yes
Does the consent permit the donor, upon withdrawal of consent, to stop the use of the derived cell line(s) that have already been created from donated samples? Yes
Does the consent permit the donor, upon withdrawal of consent, to stop delivery or use of information and data about the donor? Yes
Does consent permit access to medical records of the donor? Yes
Please describe how access is provided: Contact Dr. Ana Krepischi (ana.krepischi@ib.usp.br)
Does consent permit access to any other source of information about the clinical treatment or health of the donor? 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? Comitê de Ética em Pesquisa - Seres Humanos (CEP) do Instituto de Biociências da USP
Approval number CEP_2589398
Has a favourable opinion been obtained from a research ethics committee, or other ethics review panel, in relation to the PROPOSED PROJECT, involving use of donated embryo/tissue or derived cells? Yes
Name of accrediting authority involved? Comitê de Ética em Pesquisa - Seres Humanos (CEP) do Instituto de Biociências da USP
Approval number CEP_2589398
Do you have obligations to third parties in regard to the use of the cell line? No
Are you aware of any further constraints on the use of the donated embryo/tissue or derived cells? No
Is there an MTA available for the cell line? No
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used? Addgene
Are you aware of any constraints on the use or distribution of the cell line from the owner or any parties identified in the query above? No

hIPSC Derivation

General

Source cell type
Peripheral Blood Mononuclear Cell Sample
A sample of peripheral blood mononuclear cells.
Synonyms
  • Peripheral Blood Mononuclear Cell Specimen
  • PBMC Specimen
  • PBMC Sample
  • PBMC
  • Peripheral Blood Mononuclear Cell Sample
show more synonyms
Source cell origin
Peripheral Blood
Blood drawn from a limb.
Synonyms
  • Peripheral Blood
Collected in 2021

Reprogramming method

Vector type Non-integrating
Vector Episomal
Genes
Is reprogramming vector detectable?
Yes
Methods used
PCR
Notes on reprogramming vector detection The cells were reprogrammed using plasmids pCXLE-hOCT3/4-shp53, pCXLE-hSK, and pCXLE-hUL, containing the transcription factors OCT3/4, SOX2, KLF4, L-MYC, and LIN28, in addition to a shRNA for p53 suppression. The cells were tested for plasmid integration in to the genome by convetional PCR applied to OriP and EBNA-1 loci, with negative results.

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
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?
No
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?
Yes

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR FACS Enzymatic Assay Expression Profiles
NANOG
Yes
POU5F1 (OCT-4)
Yes
SOX2
Yes
SSEA-4
Yes
POU5F1 (OCT-4)
Yes
Differentiation Potency

Microbiology / Virus Screening

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46,XY
Passage number: 5
Karyotyping method: Array CGH

Other Genotyping (Cell Line)