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Cellosaurus ERPLi001-A (CVCL_YT20)

[Text version]
Cell line name ERPLi001-A
Synonyms AR28072001
Accession CVCL_YT20
Resource Identification Initiative To cite this cell line use: ERPLi001-A (RRID:CVCL_YT20)
Comments From: Eyestem Research Private Ltd; Bangalore; India.
Population: Indian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 34; ABCA4; Simple; c.5018+5G>A; ClinVar=VCV000438098; Zygosity=Heterozygous (PubMed=32278301).
Disease Stargardt disease (NCIt: C85078)
Stargardt disease (ORDO: Orphanet_827)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 19Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=32278301

Markers:
AmelogeninX
CSF1PO8,11
D2S133824
D3S135815,17
D5S81812,13
D7S8208,10
D8S11798,15
D13S3178,9
D16S53912
D18S5115
D19S43313,14.2
D21S1128,29
FGA19,24
TH018,9
TPOX9,10
vWA15,16

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Publications

PubMed=32278301; DOI=10.1016/j.scr.2020.101757
Konala V.B.R., Nandakumar S., Battu R., Pal R.
Derivation of three induced pluripotent stem cell lines under feeder-free culture conditions from peripheral blood mononuclear cells (PBMC) of Indian patients suffering from inherited retinal diseases carrying different mutations.
Stem Cell Res. 45:101757-101757(2020)

Cross-references
Cell line databases/resources hPSCreg; ERPLi001-A
SKIP; SKIP005737
Encyclopedic resources Wikidata; Q93541812
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number6