ID   ESi054-A
AC   CVCL_VD44
SY   [AS]FiPS1-Ep6F-2; AS-FiPS1-Ep6F-2; AS FiPS1 Ep6F-2; AS FiPS 1-Ep6F-2; [AS] FiPS 1-Ep6F-2
DR   BioSamples; SAMEA104134610
DR   hPSCreg; ESi054-A
DR   SKIP; SKIP003091
DR   Wikidata; Q54832812
RX   PubMed=29246570;
WW   Info; P-CMR[C]; -; https://p-cmrc.cat/wp-content/uploads/2020/06/AS-FiPS-1-Ep6F-2.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Documento_Deposito_Lineas_AS-FiPS-1-Ep6F-2.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo_deposito_AS-FiPS-1-Ep6F-2.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   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2204; COL4A3; Simple; p.Pro116Leufs*37 (c.345delG); ClinVar=VCV000554004; Zygosity=Homozygous (PubMed=29246570).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=29246570
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 12,14
ST   D16S539: 9,12
ST   D21S11: 30.2,32.2
ST   D5S818: 11,12
ST   D7S820: 9,10
ST   TH01: 6,9.3
ST   TPOX: 10,11
ST   vWA: 15,16
DI   NCIt; C34842; Alport syndrome
DI   ORDO; Orphanet_63; Alport syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 10-04-25; Version: 14
//
RX   PubMed=29246570; DOI=10.1016/j.scr.2017.08.021;
RA   Kuebler, Bernd
RA   Aran, Begona
RA   Miquel-Serra, Laia
RA   Munoz, Yolanda
RA   Ars, Elisabet
RA   Bullich, Gemma
RA   Furlano, Monica
RA   Torra, Roser
RA   Marti, Merce
RA   Veiga, Anna
RA   Raya, Angel
RT   "Integration-free induced pluripotent stem cells derived from a
RT   patient with autosomal recessive Alport syndrome (ARAS).";
RL   Stem Cell Res. 25:1-5(2017).
//