Cellosaurus cell line A53T (CVCL

Cellosaurus A53T (CVCL_E3C7)

[Text version]

Cell line name

A53T

Accession

CVCL_E3C7

Resource Identification Initiative

To cite this cell line use: A53T (RRID:CVCL_E3C7)

Comments

Population: Caucasian; Italian.
Donor information: Established from a Contursi kindred patient.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (PubMed=35688132).

Disease

Parkinson disease 1, autosomal dominant (NCIt: C198602)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_E3C8 (A53T-1A)

CVCL_E3C9 (A53T-1C)

CVCL_E3CA (A53T-1D)

Sex of cell

Female

Age at sampling

49Y

Category

Induced pluripotent stem cell

Publications

PubMed=35688132; DOI=10.1016/j.cell.2022.05.008; PMCID=PMC9394447
Hallacli E., Kayatekin C., Nazeen S., Wang X.-H., Sheinkopf Z., Sathyakumar S., Sarkar S., Jiang X., Dong X.-J., Di Maio R., Wang W., Keeney M.T., Felsky D., Sandoe J., Vahdatshoar A., Udeshi N.D., Mani D.R., Carr S.A., Lindquist S.L., De Jager P.L., Bartel D.P., Myers C.L., Greenamyre J.T., Feany M.B., Sunyaev S.R., Chung C.-Y., Khurana V.
The Parkinson's disease protein alpha-synuclein is a modulator of processing bodies and mRNA stability.
Cell 185:2035-2056.e33(2022)

Entry history

Entry creation

10-Sep-2024

Last entry update

19-Dec-2024

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