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Cellosaurus ESi101-A (CVCL_A8IB)

[Text version]
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; 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 8Y
Category Induced pluripotent stem cell
STR profile Source(s): BNLC

Markers:
AmelogeninX
CSF1PO12
D5S81811,12
D7S82010,11
D13S3178,11
D16S53912,14
D21S1130,33.2
TH017
TPOX8,11
vWA17,19

Run an STR similarity search on this cell line
Web pages https://p-cmrc.cat/wp-content/uploads/2021/03/THD-FiPS-A1-Ep6F-17.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/190/Caracteristicas%20-%20Documento%20registro_THD%20FiPS%20A1%20Ep6F-17.pdf
https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/190/Anexo%20-%20Anexo_dep%c3%b3sito_THD%20FiPS%20A1%20Ep6F-17.pdf
Cross-references
Cell line databases/resources hPSCreg; ESi101-A
Biological sample resources BioSamples; SAMEA113580416
Encyclopedic resources Wikidata; Q107117035
Entry history
Entry creation20-May-2021
Last entry update30-Jan-2024
Version number6