ID   ESi102-A
AC   CVCL_A8IC
SY   THD FiPS B1 Ep6F-15
DR   BioSamples; SAMEA114381978
DR   hPSCreg; ESi102-A
DR   Wikidata; Q107117037
WW   https://p-cmrc.cat/wp-content/uploads/2021/03/THD-FiPS-B1-Ep6F-15.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/189/Caracteristicas%20-%20Documento_Deposito_THD%20FiPS%20B1%20Ep6F-15.pdf
WW   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
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; 11782; TH; Simple; p.Arg328Trp (c.982C>T); Zygosity=Heterozygous (BNLC).
CC   Sequence variation: Mutation; HGNC; 11782; TH; Simple; p.Thr399Met (c.1196C>T) (p.Thr368Met, c.1103C>T); ClinVar=VCV000378729; Zygosity=Heterozygous (BNLC).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 11
ST   D13S317: 11,13
ST   D16S539: 11
ST   D21S11: 29,30
ST   D5S818: 11
ST   D7S820: 10,13
ST   TH01: 7
ST   TPOX: 8,11
ST   vWA: 16,17
DI   NCIt; C157158; Tyrosine hydroxylase deficiency
DI   ORDO; Orphanet_101150; Autosomal recessive dopa-responsive dystonia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 30-01-24; Version: 6
//