Cellosaurus cell line ERPLi003-A (CVCL

Cellosaurus ERPLi003-A (CVCL_YT22)

[Text version]

Cell line name

ERPLi003-A

Synonyms

TS30072010; RS30072010

Accession

CVCL_YT22

Resource Identification Initiative

To cite this cell line use: ERPLi003-A (RRID:CVCL_YT22)

Comments

From: Eyestem Research Private Ltd; Bangalore; India.
Population: Indian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; 12442; TYR; Simple; p.Cys91Tyr (c.272G>A); ClinVar=VCV000039977; Zygosity=Heterozygous (PubMed=32278301).
Mutation; HGNC; 12442; TYR; Simple; p.Arg278Ter (c.832C>T); ClinVar=VCV000099583; Zygosity=Heterozygous (PubMed=32278301).

Disease

Oculocutaneous albinism type 1A (NCIt: C168731)
Oculocutaneous albinism type 1A (ORDO: Orphanet_79431)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Male

Age at sampling

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=32278301

Markers:

Amelogenin	X,Y
CSF1PO	11,12
D2S1338	20,21
D3S1358	18
D5S818	11,12
D7S820	11,12
D8S1179	9,15
D13S317	11,12
D16S539	11,12
D18S51	13,17
D19S433	13,14
D21S11	31,31.2
FGA	23,25
TH01	6
TPOX	9,11
vWA	14,18

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; ERPLi003-A
SKIP; SKIP005735

Encyclopedic resources

Wikidata; Q93541819

Entry history

Entry creation

12-Mar-2020

Last entry update

29-Jun-2023

Version number