iPS_LGH_AHDC1_P3
USPi003-A
General
Cell Line |
|
| hPSCreg name | USPi003-A |
| Cite as: | USPi003-A (RRID:CVCL_C6TF) |
| Alternative name(s) |
iPS_LGH_AHDC1_P3
|
| Cell line type | Human induced pluripotent stem cell (hiPSC) |
| Similar lines |
|
| Last update | 22nd February 2023 |
| Notes | AHDC1(NM_001371928.1):c.1481__1482del(p.Lys494SerfsTer22) Xia-Gibbs syndrome model |
| User feedback | |
Provider |
|
| Generator | Universidade de São Paulo (USP) |
| Owner | Laboratory of Human Genetics - Institute of Biosciences (CEGH) |
| Distributors | |
| Derivation country | Brazil |
External Databases |
|
| BioSamples | SAMEA111506901 |
| Cellosaurus | CVCL_C6TF |
| Wikidata | Q117704949 |
General Information |
|
| Publications | |
| * 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 Krepischi (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 (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.
Synonyms
Genetic variants
AHDC1 (target)NM_001371928.1):c.1481__1482del
p.Lys494SerfsTer22
Heterozygous
|
Karyotyping (Donor) |
|
| Has the donor karyotype been analysed? |
Yes
46,XY
Karyotyping method:
Molecular karyotyping by SNP array
http:// |
External Databases (Donor) |
|
| BioSamples | SAMEA111506902 |
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 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 |
A sample of peripheral blood mononuclear cells.
Synonyms
|
| Source cell origin |
Blood drawn from a limb.
Synonyms
|
Reprogramming method |
|
| Vector type | Non-integrating |
| Vector | Episomal |
| 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? |
No |
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 | Flow Cytometry | Enzymatic Assay | Expression Profiles |
| SOX2 |
Yes |
|
||||
| SSEA-4 |
Yes |
|
||||
| POU5F1 (OCT-4) |
Yes |
|
||||
| POU5F1 (OCT-4) |
Yes |
|
||||
| NANOG |
Yes |
|
Differentiation Potency
Microbiology / Virus Screening |
|
| Mycoplasma | Negative |
Genotyping
Karyotyping (Cell Line) |
|
| Has the cell line karyotype been analysed? |
Yes
46,XY
Passage number: 8
Karyotyping method:
Array CGH
|
Other Genotyping (Cell Line) |
|
Login to share your feedback, experiences or results with the research community.