ID   ESi101-A
AC   CVCL_A8IB
SY   THD FiPS A1 Ep6F-17
DR   BioSamples; SAMEA113580416
DR   hPSCreg; ESi101-A
DR   Wikidata; Q107117035
WW   Info; P-CMR[C]; -; https://p-cmrc.cat/wp-content/uploads/2021/03/THD-FiPS-A1-Ep6F-17.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Documento%2520registro_THD%2520FiPS%2520A1%2520Ep6F-17.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo+-+Anexo_dep%C3%B3sito_THD+FiPS+A1+Ep6F-17.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; HGNC:11782; TH; Simple; p.Arg233His (c.698G>A); ClinVar=VCV000016236; Zygosity=Homozygous (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: 12
ST   D13S317: 8,11
ST   D16S539: 12,14
ST   D21S11: 30,33.2
ST   D5S818: 11,12
ST   D7S820: 10,11
ST   TH01: 7
ST   TPOX: 8,11
ST   vWA: 17,19
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   8Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 10-04-25; Version: 8
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