Cellosaurus cell line ESi127-A (CVCL

Cellosaurus ESi127-A (CVCL_E3UY)

[Text version]

Cell line name

ESi127-A

Synonyms

[STGD4]-FiPSC1-Ep5F-8

Accession

CVCL_E3UY

Resource Identification Initiative

To cite this cell line use: ESi127-A (RRID:CVCL_E3UY)

Comments

Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:9454; PROM1; Simple; p.Tyr452Leufs*13 (c.1354dupT); ClinVar=VCV000372711; Zygosity=Homozygous (PubMed=38956727).

Disease

Stargardt disease (NCIt: C85078)
Stargardt disease (ORDO: Orphanet_827)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Male

Age at sampling

20Y

Category

Induced pluripotent stem cell

STR profile

Source(s): BNLC

Markers:

Amelogenin	X,Y
CSF1PO	11,13
D5S818	9,12
D7S820	11,13
D13S317	11,13
D16S539	13,14
D21S11	28,31.2
TH01	7,9
TPOX	8,11
vWA	15,17

Web pages

https://www.isciii.es/documents/20119/c02e52e2-909f-f2de-d52d-290ac39d6109
https://www.isciii.es/documents/20119/770f7f2c-384a-9730-e9a9-74a723d6ee94

Publications

PubMed=38956727; DOI=10.1186/s13287-024-03804-2; PMCID=PMC11218195
Puertas-Neyra K.L., Coco-Martin R.M., Hernandez-Rodriguez L.A., Gobelli D.J., Garcia-Ferrer Y., Palma-Vecino R., Telleria J.J., Simarro-Grande M., de la Fuente M.A., Fernandez-Bueno I.
Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.
Stem Cell Res. Ther. 15:192.1-192.24(2024)

Cross-references

Cell line databases/resources

hPSCreg; ESi127-A

Entry history

Entry creation

19-Dec-2024

Last entry update

19-Dec-2024

Version number