Cellosaurus cell line ESi102-A (CVCL

Cellosaurus ESi102-A (CVCL_A8IC)

[Text version]

Cell line name

ESi102-A

Synonyms

THD FiPS B1 Ep6F-15

Accession

CVCL_A8IC

Resource Identification Initiative

To cite this cell line use: ESi102-A (RRID:CVCL_A8IC)

Comments

Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; 11782; TH; Simple; p.Arg328Trp (c.982C>T); Zygosity=Heterozygous (BNLC).
Mutation; HGNC; 11782; TH; Simple; p.Thr399Met (c.1196C>T) (p.Thr368Met, c.1103C>T); ClinVar=VCV000378729; Zygosity=Heterozygous (BNLC).

Disease

Tyrosine hydroxylase deficiency (NCIt: C157158)
Autosomal recessive dopa-responsive dystonia (ORDO: Orphanet_101150)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Female

Age at sampling

15Y

Category

Induced pluripotent stem cell

STR profile

Source(s): BNLC

Markers:

Amelogenin	X
CSF1PO	11
D5S818	11
D7S820	10,13
D13S317	11,13
D16S539	11
D21S11	29,30
TH01	7
TPOX	8,11
vWA	16,17

Web pages

https://p-cmrc.cat/wp-content/uploads/2021/03/THD-FiPS-B1-Ep6F-15.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/189/Caracteristicas%20-%20Documento_Deposito_THD%20FiPS%20B1%20Ep6F-15.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/189/Anexo%20-%20Anexo_dep%c3%b3sito_THD%20FiPS%20B1%20Ep6F-15.pdf

Cross-references

Cell line databases/resources

hPSCreg; ESi102-A

Biological sample resources

BioSamples; SAMEA114381978

Encyclopedic resources

Wikidata; Q107117037

Entry history

Entry creation

20-May-2021

Last entry update

30-Jan-2024

Version number