Cellosaurus cell line ESi101-A (CVCL

Cellosaurus ESi101-A (CVCL_A8IB)

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Cell line name

ESi101-A

Synonyms

THD FiPS A1 Ep6F-17

Accession

CVCL_A8IB

Resource Identification Initiative

To cite this cell line use: ESi101-A (RRID:CVCL_A8IB)

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; HGNC:11782; TH; Simple; p.Arg233His (c.698G>A); ClinVar=VCV000016236; Zygosity=Homozygous (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

Category

Induced pluripotent stem cell

STR profile

Source(s): BNLC

Markers:

Amelogenin	X
CSF1PO	12
D5S818	11,12
D7S820	10,11
D13S317	8,11
D16S539	12,14
D21S11	30,33.2
TH01	7
TPOX	8,11
vWA	17,19

Web pages

Info; P-CMR[C]; -; https://p-cmrc.cat/wp-content/uploads/2021/03/THD-FiPS-A1-Ep6F-17.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Documento%2520registro_THD%2520FiPS%2520A1%2520Ep6F-17.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo+-+Anexo_dep%C3%B3sito_THD+FiPS+A1+Ep6F-17.pdf

Cross-references

Cell line databases/resources

hPSCreg; ESi101-A

Biological sample resources

BioSamples; SAMEA113580416

Encyclopedic resources

Wikidata; Q107117035

Entry history

Entry creation

20-May-2021

Last entry update

10-Apr-2025

Version number